ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580216117
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2027939
ClinVar RCV Id:
RCV002863396
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338224.1:p.Tyr1375His
CA379790654
NM_001351295.2:c.4123T>C