ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830457545
Gene: PLEKHG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2139583
ClinVar RCV Id:
RCV003066635
RCV003151909
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_941374.3:p.Asp195Asn
CA338138348
NM_198681.4:c.583G>A