ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645386005
Gene: CTSD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001900.1:p.Val388Ile
CA5813883
NM_001909.5:c.1162G>A