ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825174088
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000358773
RCV000560655
RCV002518854
RCV004543004
ClinVar Variation:
282455
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Ala1868Thr
CA4926338
NM_000445.4:c.5602G>A