Canonical Allele Identifier: PA109634
Gene: PRPF8 HGNC NCBI

Linked Data

ClinVar Variation Id: 3358
ClinVar RCV Id: RCV000003522 RCV001242192
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006436.3:p.Pro2301Thr
CA252743
NM_006445.4:c.6901C>A