ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA346866
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195641
ClinVar RCV Id:
RCV000176251
RCV000386470
RCV003474930
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Asp780His
CA346865
NM_000070.3:c.2338G>C