ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825417163
Gene: PLEKHG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468891
ClinVar RCV Id:
RCV000532836
RCV001546653
RCV003960345
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036130.1:p.Ala340Val
CA561673
NM_001042665.1:c.1019C>T