ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830496194
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282455
ClinVar RCV Id:
RCV000358773
RCV000560655
RCV002518854
RCV004543004
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958784.1:p.Ala1841Thr
CA4926338
NM_201382.4:c.5521G>A