ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658832650
Gene: ABCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
549539
ClinVar RCV Id:
RCV000664135
RCV002245072
RCV002245071
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274103.1:p.Asn1349Ser
CA379790767
NM_001287174.3:c.4046A>G