ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA340170
Gene: HPS4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_690054.1:p.Gln626Ter
NM_152841.2:c.1876C>T