ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830477674
Gene: PLEC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Ala1847Val
CA4926316
NM_201378.4:c.5540C>T