ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830498412
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
386367
ClinVar RCV Id:
RCV000418111
RCV000795473
RCV003133261
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958784.1:p.Val3847Met
CA4924323
NM_201382.4:c.11539G>A