Canonical Allele Identifier: PA2580309671
Gene: PRPF4 HGNC NCBI
ClinVar RCV:
RCV003063793
ClinVar Variation:
2132420
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004688.2:p.Ile67Val
CA5194791
NM_004697.5:c.199A>G