ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499271575
Gene: CAPN15
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001387528
ClinVar Variation:
1074290
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005623.1:p.Ser720Phe
CA394041627
NM_005632.3:c.2159C>T