Canonical Allele Identifier: PA2828765316
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1336479
ClinVar RCV Id: RCV001817434 RCV001885325 RCV002463043
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Thr2713Ile
CA347267624
NM_001378454.1:c.8138C>T