ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830509170
Gene: RAB5C
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958842.1:p.Glu186Val
CA399557321
NM_201434.3:c.557A>T