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: PA2825067376

Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 2704425

ClinVar RCV Id: RCV003503563

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000144.2:p.Arg685_Ter686insTyrTyrLeuThrGlyHisHisArgIleLeuTrpIlePhePheProSerPheTrpPheTrpPheArgAlaAsnSerCysPheIleGlyThrValTyrGluAlaPheGluThrLysAsnAsnGluGlu	CA390745067 NM_000153.4:c.2058A>T CA390745068 NM_000153.4:c.2058A>C