ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830476462
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282499
ClinVar RCV Id:
RCV000300309
RCV001088726
RCV004021109
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Pro1109Leu
CA4927108
NM_201378.4:c.3326C>T