ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573071046
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1338431
ClinVar RCV Id:
RCV001817802
RCV003321874
RCV004526149
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338224.1:p.His1119Pro
CA379801444
NM_001351295.2:c.3356A>C