ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830487845
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471539
ClinVar RCV Id:
RCV001080164
RCV000734209
RCV002530076
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Thr4344Ile
CA4923903
NM_201379.3:c.13031C>T