ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA289175
Gene: HNF1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000536.5:p.Glu508Lys
CA289173
NM_000545.6:c.1522G>A