ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580372290
Gene: PDSS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1930510
ClinVar RCV Id:
RCV002645759
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055132.2:p.Ser35_Ala38delinsThr
CA663337966
NM_014317.5:c.104_112del