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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:
PA1139729185
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
952650
ClinVar RCV Id:
RCV001224795
RCV003158548
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Tyr422Cys
CA10599525
NM_007300.4:c.1265A>G