ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580344448
Gene: PRPF8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006436.3:p.His1563Tyr
CA397575552
NM_006445.4:c.4687C>T