ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827549253
Gene: PRPF3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337458.1:p.Asp481Val
CA1075722
NM_001350529.1:c.1442A>T