ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499235191
Gene: PAPSS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1042093
ClinVar RCV Id:
RCV001345993
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001015880.1:p.Val307Ile
CA5589609
NM_001015880.2:c.919G>A