ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830487415
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281668
ClinVar RCV Id:
RCV000319680
RCV000545914
RCV001705406
RCV002518827
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Gly3849Ser
CA4924292
NM_201379.3:c.11545G>A