ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826486483
Gene: PLEKHG5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
1478202
ClinVar RCV:
RCV002005970
ClinVar Variation:
1484664
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001252523.1:p.Ala247Pro
CA561766
NM_001265594.2:c.739G>C