ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916020447
Gene: HNF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
129230
ClinVar RCV Id:
RCV000117227
RCV000320780
RCV000710265
RCV002226667
RCV002390265
RCV003315669
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293108.2:p.Ser487Asn
CA153087
NM_001306179.2:c.1460G>A