Canonical Allele Identifier: PA109615
Gene: PRPF8 HGNC NCBI

Linked Data

ClinVar Variation Id: 3359
ClinVar RCV Id: RCV000003523 RCV001268615
ClinVar Variation Id: 987427
ClinVar RCV Id: RCV001268791
ClinVar Variation Id: 2089649
ClinVar RCV Id: RCV003020514
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006436.3:p.Phe2304Leu
CA252744
NM_006445.4:c.6912C>G
CA397562156
NM_006445.4:c.6912C>A
CA397562173
NM_006445.4:c.6910T>C