ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830501527
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
523401
ClinVar RCV:
RCV000648698
RCV001078748
ClinVar Variation:
539057
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Ala2414Val
CA4925721
NM_201383.3:c.7241C>T