Canonical Allele Identifier: PA2827464315
Gene: HPS4 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001336825.1:p.Met649Ile
CA10163144
NM_001349896.1:c.1947G>A
CA411023724
NM_001349896.1:c.1947G>C
CA411023726
NM_001349896.1:c.1947G>T