Allele Registry

Canonical Allele Identifier: PA186053

Gene: CTSD HGNC NCBI

ClinVar RCV:

RCV000162114

ClinVar Variation:

183293

HGVS (amino-acid)	Matching Registered Transcripts
NP_001900.1:p.Phe389_Ile390insMetGlyAspValPhe