Canonical Allele Identifier: PA2827168135
Gene: HPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2983204
ClinVar RCV Id: RCV003847819
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001309421.1:p.Cys190Tyr
CA471111058
NM_001322492.2:c.569G>A