ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645452137
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284468
ClinVar RCV Id:
RCV000354989
RCV001004990
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Ile178Thr
CA10604803
NM_000070.3:c.533T>C