ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827271971
Gene: PLEKHG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161500
ClinVar RCV Id:
RCV000149034
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001316731.1:p.Arg752Trp
CA174149
NM_001329802.2:c.2254C>T