Canonical Allele Identifier: PA2573261464
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1506253
ClinVar RCV Id: RCV003151881 RCV002006592
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055935.4:p.Gln2597His
CA1714350
NM_015120.4:c.7791A>C
CA347264067
NM_015120.4:c.7791A>T