Canonical Allele Identifier: PA2580344499
Gene: PRPF8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1698943
ClinVar RCV Id: RCV002272800
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006436.3:p.Pro2301Leu
CA397562229
NM_006445.4:c.6902C>T