Canonical Allele Identifier: PA2828762789
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198873
ClinVar RCV Id: RCV000180331 RCV000445450 RCV000724486 RCV001080812 RCV002390443
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Ile485Val
CA247732
NM_001378454.1:c.1453A>G