ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499278302
Gene: PDSS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1033284
ClinVar RCV Id:
RCV001335652
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055132.2:p.Leu32Met
CA376488955
NM_014317.5:c.94T>A