ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826339410
Gene: PRPF4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143057
ClinVar RCV Id:
RCV000132564
RCV001268585
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001231855.1:p.Pro314Leu
CA170079
NM_001244926.2:c.941C>T