ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA340764
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8262
ClinVar RCV Id:
RCV000008751
RCV000519116
RCV001381863
RCV001352838
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958786.1:p.Arg1973Trp
CA340759
NM_201384.3:c.5917C>T