Canonical Allele Identifier: PA2828762813
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 390294
ClinVar RCV Id: RCV000443659 RCV000860715 RCV002402200
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Asp516Glu
CA1713191
NM_001378454.1:c.1548C>G
CA347264733
NM_001378454.1:c.1548C>A