ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830487623
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
514406
ClinVar RCV Id:
RCV000615675
RCV001066397
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Arg4106Gln
CA4924099
NM_201379.3:c.12317G>A