ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830322237
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
501440
ClinVar RCV Id:
RCV000592929
RCV000727349
RCV003235305
RCV003471960
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Arg413Cys
CA391999721
NM_173087.2:c.1237C>T