ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827606311
Gene: ABCC8
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000009664
RCV000710390
RCV001831558
RCV003466844
RCV004549354
ClinVar Variation:
9096
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338226.1:p.Arg1492Trp
CA254633
NM_001351297.2:c.4474C>T