ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825174187
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2948506
ClinVar RCV Id:
RCV003809280
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Arg1948Gln
CA4926248
NM_000445.4:c.5843G>A