ClinGen Allele Registry
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Canonical Allele Identifier:
PA235925
Gene: CAPN3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
188862
ClinVar RCV:
RCV000171232
RCV000644992
ClinVar Variation:
191056
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000061.1:p.Ile777Val
CA235924
NM_000070.3:c.2329A>G