Canonical Allele Identifier: PA2828762672
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 220880
ClinVar RCV Id: RCV000224192 RCV000445400 RCV000444233 RCV001082528 RCV002453744
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Thr382Ala
CA350101
NM_001378454.1:c.1144A>G