ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829700469
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
496386
ClinVar RCV Id:
RCV000589558
RCV001022825
RCV001218897
RCV001294026
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Leu443Val
CA10592234
NM_007298.3:c.1327T>G