ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA298591
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
182143
ClinVar RCV Id:
RCV000159965
RCV000206207
RCV000571520
RCV001255547
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Asp749Val
CA001506
NM_007294.4:c.2246A>T