Canonical Allele Identifier: PA2828766835
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2095558
ClinVar RCV Id: RCV003013826
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Gly4008Arg
CA347266505
NM_001378454.1:c.12022G>A
CA347266510
NM_001378454.1:c.12022G>C