Canonical Allele Identifier: PA2828765382
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1762741
ClinVar RCV Id: RCV002430252
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Pro2761Thr
CA347268104
NM_001378454.1:c.8281C>A
CA2580068250
NM_001378454.1:c.8281_8283delinsACT