ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA242922
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000176847
RCV000547452
RCV000724976
ClinVar Variation:
196105
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Val1230Gly
CA242919
NM_201378.4:c.3689T>G