ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA334631
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188330
ClinVar RCV Id:
RCV000168347
RCV001014829
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ala744Asp
CA001494
NM_007294.4:c.2231C>A