ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830481058
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000516968
RCV000726188
RCV002060251
RCV004537855
ClinVar Variation:
448049
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Arg3851His
CA4924303
NM_201378.4:c.11552G>A