ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139693597
Gene: HNF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001249082
RCV001293984
RCV001780195
RCV003325992
RCV004017808
ClinVar Variation:
972818
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293108.2:p.Pro379Thr
CA6831957
NM_001306179.2:c.1135C>A