Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2828052517

Gene: ABCG8 HGNC NCBI

Linked Data

ClinVar Variation Id: 4974

ClinVar RCV Id: RCV000005262

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001344250.1:p.Pro231Thr	CA253369 NM_001357321.2:c.691C>A