ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645447968
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252864
ClinVar RCV Id:
RCV000238947
RCV003493552
RCV004017568
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Met48Val
CA10586094
NM_007294.4:c.142A>G