ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA314323
Gene: CTSD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001900.1:p.Ile293Leu
CA314322
NM_001909.5:c.877A>C