ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830507516
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283247
ClinVar RCV Id:
RCV000342261
RCV000725240
RCV001088184
RCV001731558
RCV004021125
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958786.1:p.Ala3693Thr
CA4924441
NM_201384.3:c.11077G>A