Canonical Allele Identifier: PA2828765250
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1927362
ClinVar RCV Id: RCV002621660
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Trp2643Arg
CA347266399
NM_001378454.1:c.7927T>A
CA347266400
NM_001378454.1:c.7927T>C