Canonical Allele Identifier: PA1139711887
Gene: PRPF8 HGNC NCBI

Linked Data

ClinVar Variation Id: 867220
ClinVar RCV Id: RCV001075866 RCV001211497
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006436.3:p.Pro2301Ser
CA397562239
NM_006445.4:c.6901C>T