Canonical Allele Identifier: PA2828765847
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 434131
ClinVar RCV Id: RCV001375363 RCV001245670 RCV000499603 RCV002376916
ClinVar Variation Id: 1197890
ClinVar RCV Id: RCV001561868
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Thr3154Ser
CA1714662
NM_001378454.1:c.9460A>T
CA347275198
NM_001378454.1:c.9461C>G