ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916020456
Gene: HNF1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000016085
RCV001810400
ClinVar Variation:
14947
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293108.2:p.Ser531Thr
CA124484
NM_001306179.2:c.1592G>C