ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580428286
Gene: HEG1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065784.1:p.Ser416Thr
CA2584134
NM_020733.2:c.1246T>A