ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829694066
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
575669
ClinVar RCV Id:
RCV000697954
RCV001524537
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Asp1315Asn
CA058970
NM_007297.4:c.3943G>A