ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829699121
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252392
ClinVar RCV Id:
RCV000238995
RCV001344583
RCV002338789
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Asp40Asn
CA10585923
NM_007298.3:c.118G>A