ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826112487
Gene: RABEPK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167623.1:p.Pro192Arg
CA5239384
NM_001174152.2:c.575C>G