ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827470828
Gene: HPS4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1369965
ClinVar RCV Id:
RCV001876912
RCV004040487
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336833.1:p.Pro624Leu
CA10163175
NM_001349904.2:c.1871C>T