ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573183179
Gene: HES7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1518644
ClinVar RCV Id:
RCV002043520
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159439.1:p.Leu184Pro
CA397987571
NM_001165967.2:c.551T>C