ClinGen Allele Registry
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Canonical Allele Identifier:
PA916066114
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289372
ClinVar RCV Id:
RCV000354372
RCV000727197
RCV000763349
RCV003330627
RCV003475918
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775111.1:p.Ser94Leu
CA7511567
NM_173088.2:c.281C>T