ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA268223
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000048568
RCV000112337
RCV000566435
RCV000588631
ClinVar Variation:
55208
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Glu1494Lys
CA002867
NM_007294.4:c.4480G>A