ClinGen Allele Registry
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Canonical Allele Identifier:
PA095451
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000019189
RCV000724646
RCV002222356
RCV002490391
RCV003473110
ClinVar Variation:
17622
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Arg490Gln
CA341479
NM_000070.3:c.1469G>A