ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830480211
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000270984
RCV000537651
RCV001079482
RCV004535330
ClinVar Variation:
284790
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Glu3226Lys
CA4924877
NM_201378.4:c.9676G>A