ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658667049
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
479213
ClinVar RCV Id:
RCV000575250
RCV000985399
RCV003530067
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Asp1162Tyr
CA10595008
NM_007294.4:c.3484G>T