ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916030285
Gene: HPS4
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001336830.1:p.Gln649Ter
NM_001349901.1:c.1945C>T