ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829711322
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
182173
ClinVar RCV Id:
RCV000160014
RCV000689723
RCV001078020
RCV001181283
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Val1859Met
CA003688
NM_007300.4:c.5575G>A