Canonical Allele Identifier: PA1139726158
Gene: HPS4 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001336830.1:p.Met667Ile
CA10163144
NM_001349901.1:c.2001G>A
CA411023724
NM_001349901.1:c.2001G>C
CA411023726
NM_001349901.1:c.2001G>T