ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA268259
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55288
ClinVar RCV Id:
RCV000112399
RCV001346129
RCV002336185
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Thr1597Ala
CA003023
NM_007294.4:c.4789A>G