Canonical Allele Identifier: PA1139711834
Gene: PRPF8 HGNC NCBI

Linked Data

ClinVar Variation Id: 965683
ClinVar RCV Id: RCV001240193 RCV001376390
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006436.3:p.Asn2280Asp
CA397563628
NM_006445.4:c.6838A>G