ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA244368
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196829
ClinVar RCV Id:
RCV000177700
RCV000546144
RCV002516747
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Glu3804Lys
CA244361
NM_000445.4:c.11410G>A