ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830497274
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450144
ClinVar RCV Id:
RCV000522422
RCV001045987
RCV004023556
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958784.1:p.Val2774Ile
CA4925360
NM_201382.4:c.8320G>A