Canonical Allele Identifier: PA2828765293
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1442420
ClinVar RCV Id: RCV002280196 RCV001969849
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Pro2686Leu
CA347267187
NM_001378454.1:c.8057C>T