ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830321865
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
500723
ClinVar RCV Id:
RCV000591299
RCV000673918
RCV003471959
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Arg309Trp
CA7511241
NM_173087.2:c.925C>T