ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645450487
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
434526
ClinVar RCV Id:
RCV000502982
RCV000821808
RCV001526203
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Thr1249Ala
CA10594479
NM_007294.4:c.3745A>G