ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915996197
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000144199
RCV000159951
RCV000165140
RCV001064185
ClinVar Variation:
156182
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Val412Ile
CA000812
NM_007300.4:c.1234G>A