ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580419279
Gene: PRPF38B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060531.2:p.Arg323Trp
CA980655
NM_018061.4:c.967C>T