Canonical Allele Identifier: PA2499274120
Gene: PRPF8 HGNC NCBI

Linked Data

ClinVar Variation Id: 30667
ClinVar RCV Id: RCV000023644 RCV002513199
ClinVar Variation Id: 2152269
ClinVar RCV Id: RCV003074983
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006436.3:p.Arg2310Ser
CA397562009
NM_006445.4:c.6930G>T
CA397562014
NM_006445.4:c.6930G>C