ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825173623
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450363
ClinVar RCV Id:
RCV000798395
RCV001722442
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Arg1482His
CA4926686
NM_000445.4:c.4445G>A