ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827095857
Gene: PDSS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308907.1:p.Glu306Ala
CA16044188
NM_001321978.2:c.917A>C