Canonical Allele Identifier: PA2828765187
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1385437
ClinVar RCV Id: RCV001888824
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Thr2591Ser
CA347264032
NM_001378454.1:c.7771A>T
CA347264034
NM_001378454.1:c.7772C>G