ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826339198
Gene: PRPF4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001231855.1:p.Ser3Phe
CA5194750
NM_001244926.2:c.8C>T