Canonical Allele Identifier: PA2828764838
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 451941
ClinVar RCV Id: RCV000545359 RCV000726963 RCV003159689
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Arg2276Gln
CA1714130
NM_001378454.1:c.6827G>A