ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830322444
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468644
ClinVar RCV Id:
RCV000546918
RCV000734564
RCV002483453
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Val507Ile
CA7511461
NM_173087.2:c.1519G>A