ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830480814
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
391777
ClinVar RCV Id:
RCV000725675
RCV000797131
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Ala3665Val
CA4924452
NM_201378.4:c.10994C>T