Canonical Allele Identifier: PA109576
Gene: PRPF8 HGNC NCBI

Linked Data

ClinVar Variation Id: 3357
ClinVar RCV Id: RCV000003521 RCV001074988 RCV001851617
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006436.3:p.Arg2310Lys
CA252742
NM_006445.4:c.6929G>A