ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825017855
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1428617
ClinVar RCV Id:
RCV001936399
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Asp247Gly
CA391998277
NM_000070.3:c.740A>G