Canonical Allele Identifier: PA2580417466
Gene: PRPF39 HGNC NCBI

Linked Data

ClinVar Variation Id: 2270170
ClinVar RCV Id: RCV004127628
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060392.3:p.Tyr396His
CA389581463
NM_017922.4:c.1186T>C