ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095603
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288404
ClinVar RCV Id:
RCV000323826
RCV001068856
RCV003463771
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Glu217Lys
CA7511092
NM_000070.3:c.649G>A