Canonical Allele Identifier: PA2828765439
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 210132
ClinVar RCV Id: RCV000194094 RCV000726038 RCV001066778 RCV002408855
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Thr2818Ile
CA208029
NM_001378454.1:c.8453C>T