Canonical Allele Identifier: PA2828764129
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 241000
ClinVar RCV Id: RCV000227881 RCV000433447 RCV000445498 RCV001705277 RCV002338754
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Thr1663Ile
CA1713808
NM_001378454.1:c.4988C>T