Canonical Allele Identifier: PA2828762920
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198876
ClinVar RCV Id: RCV002408782 RCV000180334 RCV000445510 RCV000825702 RCV001086118
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Gly613Asp
CA247738
NM_001378454.1:c.1838G>A