ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645448619
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252865
ClinVar RCV Id:
RCV000239177
RCV003157501
RCV003644949
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Val487Ala
CA10586095
NM_007294.4:c.1460T>C