ClinGen Allele Registry
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Canonical Allele Identifier:
PA658678053
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468648
ClinVar RCV Id:
RCV000542626
RCV000723534
RCV002476173
RCV004538015
RCV003476296
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Asp707Gly
CA7511744
NM_000070.3:c.2120A>G