ClinGen Allele Registry
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Canonical Allele Identifier:
PA915992612
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
182082
ClinVar RCV Id:
RCV000159854
RCV000466347
RCV001076357
RCV002345550
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Ala739Glu
CA003698
NM_007298.3:c.2216C>A