ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3068374202
Gene: HESX1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003856.1:p.Arg160Ser
CA353400378
NM_003865.3:c.478C>A