Canonical Allele Identifier: PA2827605426
Gene: ABCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 210067
ClinVar RCV Id: RCV000192390 RCV000666629 RCV000763720 RCV000710372 RCV001272242 RCV001336810 RCV001102903 RCV001102904 RCV001449652 RCV003491936 RCV004530090
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338226.1:p.Cys417Arg
CA205176
NM_001351297.2:c.1249T>C