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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:
CA2245938165
Gene: TP53
HGNC
NCBI
Linked Data
dbSNP Id:
rs2072752711
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.7668228del , CM000679.2:g.7668228del
GRCh38
NC_000017.10:g.7571546del , CM000679.1:g.7571546del
GRCh37
NC_000017.9:g.7512271del
NCBI36
NG_017013.2:g.24327del , LRG_321:g.24327del
Transcript Alleles
HGVS
Amino-acid change
ENST00000359597.8:c.994-1980del
ENSP00000352610.4:n.994-1980del
ENST00000413465.6:c.782+5957del
ENSP00000410739.2:n.782+5957del
ENST00000635293.1:c.984-799del
ENSP00000488924.1:n.984-799del
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