ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830322308
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289644
ClinVar RCV Id:
RCV000350336
RCV000517354
RCV002504018
RCV002509353
RCV003475920
RCV004535436
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Arg441Gln
CA7511363
NM_173087.2:c.1322G>A