Canonical Allele Identifier: PA2828765281
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1514181
ClinVar RCV Id: RCV002026550
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Lys2675Asn
CA347266984
NM_001378454.1:c.8025G>C
CA347266987
NM_001378454.1:c.8025G>T