Canonical Allele Identifier: PA2573261518
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_055935.4:p.Lys2676Asn
CA347266984
NM_015120.4:c.8028G>C
CA347266987
NM_015120.4:c.8028G>T