ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827466280
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_001336828.1:p.Glu639Lys
CA411023872
NM_001349899.2:c.1915G>A