Canonical Allele Identifier: PA2828766842
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 449959
ClinVar RCV Id: RCV000519349 RCV000765700 RCV003159669 RCV003387868
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Gly4013Ser
CA1715407
NM_001378454.1:c.12037G>A