Canonical Allele Identifier: PA2828764576
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 391989
ClinVar RCV Id: RCV000436669 RCV000468666 RCV001172526 RCV001580495 RCV002356622
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Ser2028Pro
CA1713998
NM_001378454.1:c.6082T>C