ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826112512
Gene: RABEPK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167624.1:p.Pro139Leu
CA374904908
NM_001174153.2:c.416C>T