Canonical Allele Identifier: PA2827464025
Gene: HPS4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1944061
ClinVar RCV Id: RCV002671014

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001336825.1:p.Leu469Phe
CA411027073
NM_001349896.1:c.1407G>T
CA411027075
NM_001349896.1:c.1407G>C