ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830487979
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
649193
ClinVar RCV Id:
RCV000804070
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Ala4477Val
CA4923780
NM_201379.3:c.13430C>T