Canonical Allele Identifier: PA2826393614
Gene: RAB18 HGNC NCBI
ClinVar RCV:
RCV000023174
ClinVar Variation:
30250
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001243341.1:p.Leu142_Ter143insGlnThrLeuGlyAsnSerIleSerCysIlePheAspGlnIleValThrSerPheCysIle
CA129065
NM_001256412.2:c.427T>C