ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830479729
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284102
ClinVar RCV Id:
RCV000337095
RCV000648496
RCV001808731
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Thr2907Met
CA4925193
NM_201378.4:c.8720C>T