ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825946141
Gene: PLEKHN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2340688
ClinVar RCV Id:
RCV004187504
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153656.1:p.Pro8Leu
CA337880334
NM_001160184.2:c.23C>T