ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573088271
Gene: PRPF8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006436.3:p.Pro6Leu
CA397572555
NM_006445.4:c.17C>T