Canonical Allele Identifier: PA2825078812
Gene: HPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2185601
ClinVar RCV Id: RCV002632536
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000186.2:p.Asp253Glu
CA378051896
NM_000195.5:c.759C>G
CA378051898
NM_000195.5:c.759C>A