ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830324512
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499036
ClinVar RCV Id:
RCV000597401
RCV000644983
RCV002476300
RCV003459469
RCV003387895
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775113.1:p.Arg33His
CA7511710
NM_173090.1:c.98G>A