Canonical Allele Identifier: PA2573261447
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1447146
ClinVar RCV Id: RCV001988129

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055935.4:p.Ser2582Arg
CA347263968
NM_015120.4:c.7744A>C
CA347263974
NM_015120.4:c.7746C>A
CA347263975
NM_015120.4:c.7746C>G