ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830322433
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
553020
ClinVar RCV Id:
RCV000668383
RCV001584540
RCV001814213
RCV003459596
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Glu505Lys
CA7511458
NM_173087.2:c.1513G>A