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: PA2580526774

Gene: MFSD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2153369

ClinVar RCV Id: RCV003085627

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_689991.1:p.Asn171Lys	CA358176181 NM_152778.4:c.513C>G CA358176182 NM_152778.4:c.513C>A