ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580260984
Gene: CTSD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1923607
ClinVar RCV Id:
RCV002604778
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001900.1:p.Leu412Phe
CA379092312
NM_001909.5:c.1234C>T