Canonical Allele Identifier: PA2828766292
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 221028
ClinVar RCV Id: RCV000224685 RCV000434829 RCV000445553 RCV001079318 RCV002408898
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Thr3543Ser
CA349169
NM_001378454.1:c.10628C>G
CA347284290
NM_001378454.1:c.10627A>T