Canonical Allele Identifier: PA259879
Gene: PRPF8 HGNC NCBI

Linked Data

ClinVar Variation Id: 30666
ClinVar RCV Id: RCV000023643
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006436.3:p.Ser2118Phe
CA259878
NM_006445.4:c.6353C>T