ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA268217
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
125707
ClinVar RCV Id:
RCV000215083
RCV000112320
RCV000483990
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ser1448Asn
CA002777
NM_007294.4:c.4343G>A