ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA244048
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196758
ClinVar RCV Id:
RCV000177622
RCV001085671
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Thr1926Met
CA244047
NM_201381.3:c.5777C>T