Canonical Allele Identifier: PA2828764336
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 241003
ClinVar RCV Id: RCV000227137 RCV000731515 RCV001172523 RCV002347904
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Pro1821Leu
CA1713890
NM_001378454.1:c.5462C>T