ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA267593
Gene: CTSD
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000087098
RCV000804177
RCV002336243
RCV003330432
ClinVar Variation:
100732
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001900.1:p.Ser157Leu
CA267592
NM_001909.5:c.470C>T