ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830495672
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_958784.1:p.Ala1407Val
CA4926734
NM_201382.4:c.4220C>T