ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829700492
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55255
ClinVar RCV Id:
RCV000048622
RCV000112376
RCV001176277
RCV001280674
RCV003237432
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Asp453His
CA002955
NM_007298.3:c.1357G>C