Canonical Allele Identifier: PA2828765420
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 393018
ClinVar RCV Id: RCV000514773 RCV000468894 RCV002446761 RCV003114574
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Arg2804His
CA1714465
NM_001378454.1:c.8411G>A