ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA320178
Gene: PDSS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214989
ClinVar RCV Id:
RCV000195802
RCV000727264
RCV001335051
RCV002515425
RCV003977544
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065114.3:p.Arg349Gln
CA320177
NM_020381.4:c.1046G>A