Canonical Allele Identifier: PA658653923
Gene: PRPF8 HGNC NCBI

Linked Data

ClinVar Variation Id: 444391
ClinVar RCV Id: RCV000513508 RCV003889917
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006436.3:p.His2313Arg
CA397561966
NM_006445.4:c.6938A>G