ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573056415
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141848
ClinVar RCV Id:
RCV000130527
RCV000699217
RCV001175560
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Asp427His
CA011443
NM_000059.4:c.1279G>C