ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830477904
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000533391
RCV000727803
RCV004024180
ClinVar Variation:
471617
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Arg1946His
CA4926205
NM_201378.4:c.5837G>A