Canonical Allele Identifier: PA2828766320
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2141309
ClinVar RCV Id: RCV003060333
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Arg3568Thr
CA347284948
NM_001378454.1:c.10703G>C