ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827163180
Gene: HPS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1306248
ClinVar RCV Id:
RCV001767201
RCV002496092
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001309407.1:p.Asp254Asn
CA5639303
NM_001322478.1:c.760G>A