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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:
PA1139722455
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
867381
ClinVar RCV Id:
RCV001076058
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Pro677Ala
CA10590629
NM_007299.4:c.2029C>G