ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827603054
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
371380
ClinVar RCV Id:
RCV000409175
RCV001203709
RCV002230219
RCV001828376
RCV002502430
RCV003463804
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338224.1:p.Arg74Trp
CA5903947
NM_001351295.2:c.220C>T