ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139710245
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
952782
ClinVar RCV Id:
RCV001224957
RCV003158549
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ser995Asn
CA058108
NM_007297.4:c.2984G>A