ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA244453
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000177710
RCV000648559
RCV000724970
RCV004537446
ClinVar Variation:
196839
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Glu2990Lys
CA244451
NM_201379.3:c.8968G>A