ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830481968
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283254
ClinVar RCV Id:
RCV000712724
RCV001088628
RCV004021126
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Gly4470Ser
CA4923805
NM_201378.4:c.13408G>A