Canonical Allele Identifier: PA2828763633
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 459865
ClinVar RCV Id: RCV000549164 RCV002286752 RCV002350215
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Glu1243Gln
CA1713581
NM_001378454.1:c.3727G>C