ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825172885
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
432717
ClinVar RCV Id:
RCV000712725
RCV001080262
RCV004023344
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Ser684Cys
CA4927772
NM_000445.4:c.2050A>T