ClinGen Allele Registry
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Canonical Allele Identifier:
PA109600
Gene: PRPF8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3356
ClinVar RCV Id:
RCV000003520
RCV001073295
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006436.3:p.His2309Pro
CA252741
NM_006445.4:c.6926A>C