ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499259691
Gene: CTSD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1018640
ClinVar RCV Id:
RCV001317968
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001900.1:p.Arg392Leu
CA216168582
NM_001909.5:c.1175G>T