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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:
PA2829698108
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
865468
ClinVar RCV Id:
RCV001072894
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Val1757Leu
CA10590646
NM_007297.4:c.5269G>C