ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA267850
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54407
ClinVar RCV Id:
RCV000047648
RCV000111736
RCV000563837
RCV001723637
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Glu649Gln
CA001285
NM_007294.4:c.1945G>C