ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830485111
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
287223
ClinVar RCV Id:
RCV000352378
RCV000725974
RCV001079892
RCV001331245
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Ala2061Val
CA4926068
NM_201379.3:c.6182C>T