ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741927765
Gene: PRPF8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006436.3:p.Gly1992Ser
CA397568976
NM_006445.4:c.5974G>A