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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:
PA891851466
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
565640
ClinVar RCV Id:
RCV000685249
RCV001540322
RCV003157814
RCV003229598
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Val1176Ile
CA059403
NM_007294.4:c.3526G>A