ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA276039
Gene: CTSD
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000190883
RCV001852537
ClinVar Variation:
208849
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001900.1:p.Arg399His
CA276038
NM_001909.5:c.1196G>A