ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA110636
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000008751
RCV000519116
RCV001352838
RCV001381863
ClinVar Variation:
8262
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958782.1:p.Arg2110Trp
CA340759
NM_201380.4:c.6328C>T