Canonical Allele Identifier: PA109646
Gene: PRPF8 HGNC NCBI

Linked Data

ClinVar Variation Id: 865924
ClinVar RCV Id: RCV001073515 RCV001387349
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006436.3:p.Tyr2334Asn
CA397561696
NM_006445.4:c.7000T>A