ClinGen Allele Registry
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Canonical Allele Identifier:
PA314339
Gene: CTSD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
202550
ClinVar RCV:
RCV000710114
RCV001085708
RCV002317090
ClinVar Variation:
205348
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001900.1:p.Arg34Trp
CA314338
NM_001909.5:c.100C>T