ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA244461
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196840
ClinVar RCV Id:
RCV000177711
RCV000724581
RCV000799044
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Glu2841Lys
CA244460
NM_201381.3:c.8521G>A