ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499250658
Gene: ABCC8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338224.1:p.Ala1479Val
CA379785330
NM_001351295.2:c.4436C>T