Canonical Allele Identifier: PA2828765943
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 403927
ClinVar RCV Id: RCV000520369 RCV001082321 RCV001269158 RCV002374738
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Arg3238Cys
CA1714745
NM_001378454.1:c.9712C>T