Canonical Allele Identifier: PA2580131982
Gene: PAPSS2 HGNC NCBI
ClinVar RCV:
RCV002733167
ClinVar Variation:
2245740
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001015880.1:p.Phe600Ser
CA211241648
NM_001015880.2:c.1799T>C