ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: ALMS1
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001365383.1:p.Thr3543Ser
NM_001378454.1:c.10627A>T
NM_001378454.1:c.10628C>G