Canonical Allele Identifier: PA2573262091
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1464538
ClinVar RCV Id: RCV001997983 RCV002388948
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055935.4:p.Ser3493Arg
CA347283079
NM_015120.4:c.10477A>C
CA347283094
NM_015120.4:c.10479T>A
CA347283096
NM_015120.4:c.10479T>G