Canonical Allele Identifier: PA2828766357
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1300849
ClinVar RCV Id: RCV001732699 RCV002222721 RCV002425035 RCV002477907 RCV003401665
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Arg3606Gln
CA1715063
NM_001378454.1:c.10817G>A