ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915993830
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
482928
ClinVar RCV Id:
RCV000573938
RCV001076254
RCV003645046
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Thr571Ala
CA10591468
NM_007299.4:c.1711A>G