ClinGen Allele Registry
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Canonical Allele Identifier:
PA288798
Gene: CTSD
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000116853
RCV000625347
RCV000675959
RCV001517366
RCV002312084
ClinVar Variation:
128873
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001900.1:p.Ala58Val
CA288797
NM_001909.5:c.173C>T