Canonical Allele Identifier: PA2828765369
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 393376
ClinVar RCV Id: RCV000445456 RCV000667911 RCV003168711
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.His2753Asn
CA1714432
NM_001378454.1:c.8257C>A