ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916026654
Gene: HPS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001309421.1:p.Ser200Pro
CA341638
NM_001322492.2:c.598T>C