ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830508222
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471543
ClinVar RCV Id:
RCV000538276
RCV001755869
RCV002248776
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958786.1:p.Gly4482Ser
CA4923807
NM_201384.3:c.13444G>A