ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829711950
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
489737
ClinVar RCV Id:
RCV000580159
RCV000985445
RCV001320781
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Ala253Val
CA10600566
NM_007299.4:c.758C>T