ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829690632
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
96904
ClinVar RCV Id:
RCV000083025
RCV000164402
RCV001245413
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ser647Asn
CA001381
NM_007297.4:c.1940G>A