ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830322362
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000597737
RCV000727466
RCV003471964
ClinVar Variation:
502152
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Ile458Thr
CA391999998
NM_173087.2:c.1373T>C