ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830482054
Gene: PLEC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Ser4511Leu
CA4923756
NM_201378.4:c.13532C>T