Canonical Allele Identifier: PA109588
Gene: PRPF8 HGNC NCBI

Linked Data

ClinVar Variation Id: 3355
ClinVar RCV Id: RCV000003519 RCV001073694 RCV001385146
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006436.3:p.His2309Arg
CA252740
NM_006445.4:c.6926A>G