Canonical Allele Identifier: PA2828765169
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2976930
ClinVar RCV Id: RCV003839064
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Glu2580Lys
CA347263961
NM_001378454.1:c.7738G>A