ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095711
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282512
ClinVar RCV Id:
RCV000414202
RCV000644997
RCV002222470
RCV003475895
RCV004017582
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Ile502Thr
CA7511375
NM_000070.3:c.1505T>C