ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830503650
Gene: PLEC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Ser4529Leu
CA4923756
NM_201383.3:c.13586C>T