Canonical Allele Identifier: PA2499274121
Gene: PRPF8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1001079
ClinVar RCV Id: RCV001297310
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006436.3:p.Phe2314Ser
CA397561946
NM_006445.4:c.6941T>C