Canonical Allele Identifier: PA2828765604
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 506219
ClinVar RCV Id: RCV000609389 RCV001050820 RCV001584424 RCV003160072
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.His2946Arg
CA1714555
NM_001378454.1:c.8837A>G