ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830322203
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000274198
RCV000291465
RCV003463735
ClinVar Variation:
280038
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Arg400Cys
CA7511324
NM_173087.2:c.1198C>T