Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2828053016

Gene: ABCG8 HGNC NCBI

Linked Data

ClinVar Variation Id: 597119

ClinVar RCV Id: RCV000733144 RCV003165990 RCV003492159

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001344250.1:p.Met614Ile	CA1637681 NM_001357321.2:c.1842G>C CA346670938 NM_001357321.2:c.1842G>A CA346670939 NM_001357321.2:c.1842G>T