ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA244319
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196824
ClinVar RCV Id:
RCV000177695
RCV001083840
RCV000724010
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Glu4050Lys
CA244316
NM_201378.4:c.12148G>A