ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827467085
Gene: HPS4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1506293
ClinVar RCV Id:
RCV002006622
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336829.1:p.Glu525Val
CA411026554
NM_001349900.2:c.1574A>T