Canonical Allele Identifier: PA2580344497
Gene: PRPF8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2090603
ClinVar RCV Id: RCV003013186

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006436.3:p.Asn2300Asp
CA397562269
NM_006445.4:c.6898A>G