Canonical Allele Identifier: PA2828765305
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 389822
ClinVar RCV Id: RCV000443616 RCV001833559
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Ser2704Phe
CA1714405
NM_001378454.1:c.8111C>T