ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095488
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17614
ClinVar RCV Id:
RCV000726518
RCV001198825
RCV003323362
RCV000019180
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Arg572Gln
CA341470
NM_000070.3:c.1715G>A