Canonical Allele Identifier: PA645407420
Gene: PRPF8 HGNC NCBI

Linked Data

ClinVar Variation Id: 321873
ClinVar RCV Id: RCV000291876

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006436.3:p.Met2261Ile
CA10638980
NM_006445.4:c.6783G>A
CA397563809
NM_006445.4:c.6783G>T
CA397563813
NM_006445.4:c.6783G>C