ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830323259
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284465
ClinVar RCV Id:
RCV000591859
RCV000725457
RCV001814146
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775111.1:p.Arg34Cys
CA7511450
NM_173088.2:c.100C>T