ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830024768
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290265
ClinVar RCV Id:
RCV000367015
RCV001064204
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Thr232Pro
CA10606714
NM_024344.1:c.694A>C