Canonical Allele Identifier: PA2828766687
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 240979
ClinVar RCV Id: RCV000229716 RCV000413261 RCV001172499 RCV000825113 RCV002321884
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.His3881Tyr
CA1715264
NM_001378454.1:c.11641C>T