Canonical Allele Identifier: PA2580212981
Gene: HPS4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1944061
ClinVar RCV Id: RCV002671014
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001336830.1:p.Leu487Phe
CA411027073
NM_001349901.1:c.1461G>T
CA411027075
NM_001349901.1:c.1461G>C