ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830497465
Gene: PLEC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958784.1:p.Arg2949Trp
CA4925162
NM_201382.4:c.8845C>T