ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830298051
Gene: HPS4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2379255
ClinVar RCV Id:
RCV002684231
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_690054.1:p.Glu634Lys
CA411023872
NM_152841.2:c.1900G>A