Canonical Allele Identifier: PA2828764786
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 459879
ClinVar RCV Id: RCV000557119 RCV003222021 RCV002367800
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Asp2213Tyr
CA1714099
NM_001378454.1:c.6637G>T