Canonical Allele Identifier: PA2828766841
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 553675
ClinVar RCV Id: RCV000669178 RCV000728513 RCV002343419
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Asp4012Glu
CA1715406
NM_001378454.1:c.12036C>A
CA347266637
NM_001378454.1:c.12036C>G