ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830323932
Gene: CAPN3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000171232
RCV000644992
ClinVar Variation:
191056
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775111.1:p.Ile265Val
CA235924
NM_173088.2:c.793A>G