ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830508116
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000734209
RCV001080164
RCV002530076
ClinVar Variation:
471539
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958786.1:p.Thr4366Ile
CA4923903
NM_201384.3:c.13097C>T