ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA244473
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000177712
RCV000537168
RCV003165372
ClinVar Variation:
196841
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958784.1:p.Arg3017Trp
CA244469
NM_201382.4:c.9049C>T