ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA314369
Gene: CTSD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205363
ClinVar RCV Id:
RCV000187320
RCV001207662
RCV002433840
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001900.1:p.Ser100Phe
CA314368
NM_001909.5:c.299C>T