ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826393537
Gene: RAB18
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000087132
ClinVar Variation:
100768
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243339.1:p.Thr124Arg
CA150633
NM_001256410.2:c.371C>G