ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA117891
Gene: RAB27A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_899058.1:p.Leu130Pro
NM_183235.3:c.389T>C