ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830321867
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430022
ClinVar RCV Id:
RCV000493163
RCV000667745
RCV001731719
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Arg309Gln
CA269840817
NM_173087.2:c.926G>A