ClinGen Allele Registry
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Canonical Allele Identifier:
PA916030932
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
446776
ClinVar RCV Id:
RCV000518373
RCV000671471
RCV001277180
RCV003884589
RCV003470643
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338224.1:p.Arg1415His
CA5902547
NM_001351295.2:c.4244G>A