ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830479416
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283947
ClinVar RCV Id:
RCV000314788
RCV000554534
RCV000725362
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Arg2675His
CA4925429
NM_201378.4:c.8024G>A