ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA340760
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000008751
RCV000519116
RCV001352838
RCV001381863
ClinVar Variation:
8262
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Arg1941Trp
CA340759
NM_201381.3:c.5821C>T