Canonical Allele Identifier: PA2829965125
Gene: HPS4 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_071364.4:p.Met649Ile
CA10163144
NM_022081.5:c.1947G>A
CA411023724
NM_022081.5:c.1947G>C
CA411023726
NM_022081.5:c.1947G>T