Canonical Allele Identifier: PA2828764124
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 529389
ClinVar RCV Id: RCV000634801 RCV001574746 RCV002334076
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Pro1659Gln
CA1713804
NM_001378454.1:c.4976C>A