Canonical Allele Identifier: PA270104
Gene: PRPF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 143142
ClinVar RCV Id: RCV000132667

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_036601.2:p.Asp184His
CA270103
NM_012469.4:c.550G>C