Canonical Allele Identifier: PA2499274124
Gene: PRPF8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1065678
ClinVar RCV Id: RCV001376267
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006436.3:p.Gly2323Trp
CA397561825
NM_006445.4:c.6967G>T