Canonical Allele Identifier: PA913194600
Gene: PRPF8 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006436.3:p.Glu2322Asp
CA8271041
NM_006445.4:c.6966G>C
CA397561830
NM_006445.4:c.6966G>T