ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830502404
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
390991
ClinVar RCV Id:
RCV000443980
RCV000706705
RCV003129859
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Pro3242Leu
CA4924879
NM_201383.3:c.9725C>T