ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830476866
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
510552
ClinVar RCV Id:
RCV000604760
RCV000810548
RCV000999095
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Ala1393Val
CA4926734
NM_201378.4:c.4178C>T