ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830506519
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000522422
RCV001045987
RCV004023556
ClinVar Variation:
450144
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958786.1:p.Val2774Ile
CA4925360
NM_201384.3:c.8320G>A