Canonical Allele Identifier: PA2828765319
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1494471
ClinVar RCV Id: RCV001989366
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Ser2714Pro
CA347267633
NM_001378454.1:c.8140T>C