ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830024513
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193037
ClinVar RCV Id:
RCV000173055
RCV000710093
RCV003462272
RCV003114322
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Arg49Cys
CA346852
NM_024344.1:c.145C>T