ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830486243
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448078
ClinVar RCV Id:
RCV000730507
RCV000648520
RCV002252149
RCV000518817
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Arg2750His
CA4925363
NM_201379.3:c.8249G>A