ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830322064
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281505
ClinVar RCV Id:
RCV000340100
RCV000724905
RCV001814141
RCV002509343
RCV002502096
RCV003475890
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Thr369Met
CA7511300
NM_173087.2:c.1106C>T