ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915999123
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
230277
ClinVar RCV Id:
RCV000216681
RCV000819699
RCV003997820
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Val1054Met
CA10580580
NM_007300.4:c.3160G>A