Canonical Allele Identifier: PA2828764511
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 337017
ClinVar RCV Id: RCV000343648 RCV003910301
ClinVar Variation Id: 2181471
ClinVar RCV Id: RCV002606166
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Lys1977Asn
CA10616149
NM_001378454.1:c.5931G>C
CA347283980
NM_001378454.1:c.5931G>T