ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645458574
Gene: PLEC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958782.1:p.Thr4553Met
CA4923869
NM_201380.4:c.13658C>T