ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830480425
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
502558
ClinVar RCV Id:
RCV000596668
RCV000727512
RCV000810147
RCV003160062
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Ala3379Val
CA4924729
NM_201378.4:c.10136C>T