Canonical Allele Identifier: PA2828764715
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 424295
ClinVar RCV Id: RCV000480373 RCV000546991 RCV002367657
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Pro2148Thr
CA1714063
NM_001378454.1:c.6442C>A