ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098918
Gene: PRPF31
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056444.3:p.Ala216Pro
CA253133
NM_015629.4:c.646G>C