ClinGen Allele Registry
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Canonical Allele Identifier:
PA916000542
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
479227
ClinVar RCV Id:
RCV000561337
RCV000699500
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Asp1343Tyr
CA10593904
NM_007300.4:c.4027G>T