ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645394132
Gene: HELZ
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_055692.2:p.Ile1108Val
NM_014877.3:c.3322A>G