ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658828286
Gene: PRPF8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006436.3:p.Arg1935His
CA397569804
NM_006445.4:c.5804G>A