ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA244403
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196833
ClinVar RCV Id:
RCV000177704
RCV001218004
RCV003278679
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Arg3407Trp
CA244397
NM_201383.3:c.10219C>T