Canonical Allele Identifier: PA2827163579
Gene: HPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1336747
ClinVar RCV Id: RCV001819233
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001309408.1:p.Ala93Thr
CA5639448
NM_001322479.1:c.277G>A