ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580140947
Gene: HELZ2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001032412.2:p.Pro215Gln
CA317477569
NM_001037335.2:c.644C>A