ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915992680
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
482917
ClinVar RCV Id:
RCV000567198
RCV001316745
RCV001077623
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Ile751Thr
CA10590196
NM_007298.3:c.2252T>C