ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097314
Gene: PRPF4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004688.2:p.Pro315Leu
CA170079
NM_004697.5:c.944C>T