ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830490514
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000435316
RCV000725844
RCV000795472
RCV002521792
RCV004533062
ClinVar Variation:
386366
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Thr849Met
CA4927429
NM_201381.3:c.2546C>T