ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825173617
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282780
ClinVar RCV Id:
RCV000534113
RCV000725142
RCV002288959
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Glu1478Lys
CA4926691
NM_000445.4:c.4432G>A