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: PA2573072386

Gene: MFSD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 533373

ClinVar RCV Id: RCV000640467 RCV001835890

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001358521.1:p.Lys335Asn	CA358172133 NM_001371592.1:c.1005G>T CA358172136 NM_001371592.1:c.1005G>C