Canonical Allele Identifier: PA2828765050
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 517655
ClinVar RCV Id: RCV000603830 RCV001539273 RCV001860344 RCV003380641
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Ala2481Thr
CA1714233
NM_001378454.1:c.7441G>A