ClinGen Allele Registry
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Canonical Allele Identifier:
PA658812047
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_958782.1:p.Ala2547Val
CA4925721
NM_201380.4:c.7640C>T