Canonical Allele Identifier: PA2573251242
Gene: PRPF8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1388434
ClinVar RCV Id: RCV001886679
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006436.3:p.Gly2323Arg
CA397561827
NM_006445.4:c.6967G>C
CA397561829
NM_006445.4:c.6967G>A