ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915996951
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54338
ClinVar RCV Id:
RCV000111672
RCV000567663
RCV001302954
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser578Tyr
CA001138
NM_007300.4:c.1733C>A