ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830475763
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_958780.1:p.Ser643Cys
CA4927772
NM_201378.4:c.1927A>T