ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580158520
Gene: RABEPK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167624.1:p.Pro85Ser
CA5239326
NM_001174153.2:c.253C>T