ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645385932
Gene: CTSD
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000417103
RCV002521500
ClinVar Variation:
375630
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001900.1:p.Phe229del
CA16044399
NM_001909.5:c.686_688del