Canonical Allele Identifier: PA2826339255
Gene: PRPF4 HGNC NCBI
ClinVar RCV:
RCV003063793
ClinVar Variation:
2132420
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001231855.1:p.Ile66Val
CA5194791
NM_001244926.2:c.196A>G