ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830481034
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000418111
RCV000795473
RCV003133261
ClinVar Variation:
386367
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Val3833Met
CA4924323
NM_201378.4:c.11497G>A