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.
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Canonical Allele Identifier: PA2741951509

Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2839113

ClinVar RCV Id: RCV003608746

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_055935.4:p.Lys3677Asn	CA347286993 NM_015120.4:c.11031G>C CA347286994 NM_015120.4:c.11031G>T