ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA201492
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195001
ClinVar RCV Id:
RCV000175499
RCV000555489
RCV000999100
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Arg732His
CA201489
NM_201378.4:c.2195G>A