ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828052517
Gene: ABCG8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4974
ClinVar RCV Id:
RCV000005262
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001344250.1:p.Pro231Thr
CA253369
NM_001357321.2:c.691C>A