ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA340171
Gene: HPS4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_071364.4:p.Gln631Ter
NM_022081.5:c.1891C>T