ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827471664
Gene: HPS4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2095291
ClinVar RCV Id:
RCV003013757
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336834.1:p.Val494Ile
CA10163313
NM_001349905.1:c.1480G>A