ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916030859
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
434050
ClinVar RCV Id:
RCV000501008
RCV000763719
RCV001102697
RCV001102698
RCV001102699
RCV001278414
RCV002056831
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338224.1:p.Ala748Thr
CA5903282
NM_001351295.2:c.2242G>A