Canonical Allele Identifier: PA2828766453
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 384519
ClinVar RCV Id: RCV000437171 RCV000665868 RCV002429400
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Arg3678Trp
CA1715104
NM_001378454.1:c.11032C>T