Canonical Allele Identifier: PA2828766829
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 391899
ClinVar RCV Id: RCV000436491 RCV000464330 RCV002348248
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Arg4002Trp
CA1715400
NM_001378454.1:c.12004C>T