ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580151808
Gene: HES7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159439.1:p.Ser186Tyr
CA287537084
NM_001165967.2:c.557C>A