ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645462245
Gene: C2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
356249
ClinVar RCV Id:
RCV000285510
RCV000329987
RCV000379644
RCV001095044
RCV002058586
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000054.2:p.Ala472Thr
CA3727699
NM_000063.6:c.1414G>A