ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA220871
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000078852
RCV000873584
RCV002513828
RCV004537316
ClinVar Variation:
93037
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Ala782Thr
CA220864
NM_000445.4:c.2344G>A