Canonical Allele Identifier: PA2828766837
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2663278
ClinVar RCV Id: RCV003442466
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.His4010Gln
CA347266579
NM_001378454.1:c.12030C>A
CA347266581
NM_001378454.1:c.12030C>G