ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825174669
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000529959
RCV000609012
RCV000727816
RCV004024181
ClinVar Variation:
471637
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Ala2308Thr
CA4925834
NM_000445.4:c.6922G>A