ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830488359
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
386366
ClinVar RCV Id:
RCV000435316
RCV000795472
RCV000725844
RCV002521792
RCV004533062
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958782.1:p.Thr1018Met
CA4927429
NM_201380.4:c.3053C>T