Canonical Allele Identifier: PA2741927786
Gene: PRPF8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2815260
ClinVar RCV Id: RCV003683340

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006436.3:p.Met2284Ile
CA397563571
NM_006445.4:c.6852G>T
CA397563573
NM_006445.4:c.6852G>C
CA397563574
NM_006445.4:c.6852G>A