Canonical Allele Identifier: PA2828765380
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426304
ClinVar RCV Id: RCV000489619 RCV000526705 RCV002431428 RCV003323567
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Pro2761Ala
CA1714439
NM_001378454.1:c.8281C>G