Canonical Allele Identifier: PA2828763210
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 391955
ClinVar RCV Id: RCV000418320 RCV000468401 RCV000767099 RCV002429455
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Gly846Arg
CA1713374
NM_001378454.1:c.2536G>A
CA347270453
NM_001378454.1:c.2536G>C