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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA775165359
Gene: TP53
HGNC
NCBI
Linked Data
dbSNP Id:
rs1238824736
MyVariant Identifiers:
chr17:g.7571549_7571552del (hg19)
chr17:g.7668231_7668234del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.7668231_7668234del , CM000679.2:g.7668231_7668234del
GRCh38
NC_000017.10:g.7571549_7571552del , CM000679.1:g.7571549_7571552del
GRCh37
NC_000017.9:g.7512274_7512277del
NCBI36
NG_017013.2:g.24317_24320del , LRG_321:g.24317_24320del
Transcript Alleles
HGVS
Amino-acid change
ENST00000359597.8:c.994-1990_994-1987del
ENSP00000352610.4:n.994-1990_994-1987del
ENST00000413465.6:c.782+5947_782+5950del
ENSP00000410739.2:n.782+5947_782+5950del
ENST00000635293.1:c.984-809_984-806del
ENSP00000488924.1:n.984-809_984-806del
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