Canonical Allele Identifier: PA2828765142
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1025636
ClinVar RCV Id: RCV001325975

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Ser2562Arg
CA1714318
NM_001378454.1:c.7686T>G
CA347263847
NM_001378454.1:c.7684A>C
CA347263852
NM_001378454.1:c.7686T>A