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: PA2741811968

Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 2984449

ClinVar RCV Id: RCV003843608

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000246.2:p.Asn120Lys	CA364404913 NM_000255.4:c.360T>G CA364404914 NM_000255.4:c.360T>A