Canonical Allele Identifier: PA2828763005
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 210126
ClinVar RCV Id: RCV000194030 RCV000463604 RCV000726112 RCV001172511 RCV002415817
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Tyr679Cys
CA207921
NM_001378454.1:c.2036A>G