ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825207543
Gene: HNF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14928
ClinVar RCV Id:
RCV000016065
RCV000713784
RCV000762891
RCV001526899
RCV001810399
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000536.6:p.Pro447Leu
CA124454
NM_000545.8:c.1340C>T