ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830479210
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497000
ClinVar RCV Id:
RCV000598086
RCV002530953
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Arg2517His
CA4925572
NM_201378.4:c.7550G>A