ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA242176
Gene: PLEC
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_958782.1:p.Val988Met
NM_201380.4:c.2962G>A