Canonical Allele Identifier: PA2741927780
Gene: PRPF8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2803610
ClinVar RCV Id: RCV003681599
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006436.3:p.Glu2236Lys
CA397564089
NM_006445.4:c.6706G>A