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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:
CA2519557988
Gene: TP53
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.7668116del , CM000679.2:g.7668116del
GRCh38
NC_000017.10:g.7571434del , CM000679.1:g.7571434del
GRCh37
NC_000017.9:g.7512159del
NCBI36
NG_017013.2:g.24436del , LRG_321:g.24436del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000359597.8:c.994-1871del
ENSP00000352610.4:n.994-1871del
ENST00000413465.6:c.782+6066del
ENSP00000410739.2:n.782+6066del
ENST00000635293.1:c.984-690del
ENSP00000488924.1:n.984-690del
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