ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827549214
Gene: PRPF3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337458.1:p.Thr359Met
CA252736
NM_001350529.1:c.1076C>T