ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA192083
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55036
ClinVar RCV Id:
RCV000077556
RCV000164922
RCV001355516
RCV001339366
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ala1293Val
CA002501
NM_007294.4:c.3878C>T