ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827549247
Gene: PRPF3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1362502
ClinVar RCV Id:
RCV001900194
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337458.1:p.Pro453Ser
CA342284917
NM_001350529.1:c.1357C>T