ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830322493
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17614
ClinVar RCV Id:
RCV000726518
RCV001198825
RCV003323362
RCV000019180
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Arg524Gln
CA341470
NM_173087.2:c.1571G>A