ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829612360
Gene: RABEPK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005824.2:p.Pro190Leu
CA374904908
NM_005833.4:c.569C>T