Canonical Allele Identifier: PA2828765332
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423545
ClinVar RCV Id: RCV000486873 RCV000665532 RCV003168976
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Ser2723Tyr
CA1714417
NM_001378454.1:c.8168C>A