ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA252739
Gene: PRPF3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3354
ClinVar RCV Id:
RCV000003518
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004689.1:p.Ala489Asp
CA252738
NM_004698.4:c.1466C>A