ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA220349
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
92414
ClinVar RCV Id:
RCV000078095
RCV000201145
RCV001804832
RCV002504988
RCV003474674
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Ala798Glu
CA220348
NM_000070.3:c.2393C>A