Canonical Allele Identifier: PA2828764673
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 389275
ClinVar RCV Id: RCV000439863 RCV000865671 RCV001172506 RCV001698278 RCV002365550
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Ser2101Trp
CA1714043
NM_001378454.1:c.6302C>G