ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827469746
Gene: HPS4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336832.1:p.Leu443Val
CA176313
NM_001349903.2:c.1327C>G