Canonical Allele Identifier: PA645407406
Gene: PRPF8 HGNC NCBI

Linked Data

ClinVar Variation Id: 321913
ClinVar RCV Id: RCV000282758 RCV001055390
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006436.3:p.Thr418Ser
CA8272407
NM_006445.4:c.1253C>G
CA397563059
NM_006445.4:c.1252A>T