ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915996446
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54249
ClinVar RCV Id:
RCV000111613
RCV000215347
RCV000235125
RCV001340961
RCV000779907
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Asn473Ile
CA000955
NM_007300.4:c.1418A>T