Canonical Allele Identifier: PA2829965120
Gene: HPS4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1358172
ClinVar RCV Id: RCV001904094

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_071364.4:p.Leu646Phe
CA411023782
NM_022081.5:c.1936C>T