ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829993546
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282411
ClinVar RCV Id:
RCV000295812
RCV000711016
RCV001420333
RCV003323488
RCV003475893
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Arg763Trp
CA10604167
NM_024344.1:c.2287C>T