Canonical Allele Identifier: PA2828766586
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 240977
ClinVar RCV Id: RCV000233166 RCV000437494 RCV000825109 RCV002444912
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Ile3785Val
CA1715173
NM_001378454.1:c.11353A>G