ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105404
Gene: PDSS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065114.3:p.Ser382Leu
CA114835
NM_020381.4:c.1145C>T