ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3076745746
Gene: HPS6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079023.2:p.Gln75Lys
CA377855324
NM_024747.6:c.223C>A