Canonical Allele Identifier: PA2825176930
Gene: PLEC HGNC NCBI
ClinVar RCV:
RCV002912666
ClinVar Variation:
2040693
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000436.2:p.Ser4550Tyr
CA4923757
NM_000445.4:c.13649C>A