ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915998649
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54689
ClinVar RCV Id:
RCV000111945
RCV000568463
RCV001852997
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Asp940Tyr
CA001846
NM_007300.4:c.2818G>T