ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139700613
Gene: PRPF4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004688.2:p.Asp503Asn
CA5195190
NM_004697.5:c.1507G>A