Canonical Allele Identifier: PA314329
Gene: CTSD HGNC NCBI

Linked Data

ClinVar Variation Id: 205343
ClinVar Variation Id: 1960720
ClinVar RCV Id: RCV002706615

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001900.1:p.Met373Ile
CA314328
NM_001909.5:c.1119G>C
CA379092645
NM_001909.5:c.1119G>T
CA379092647
NM_001909.5:c.1119G>A