ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916028182
Gene: HELZ
HGNC
NCBI
Linked Data
ClinVar Variation Id:
402158
ClinVar RCV Id:
RCV000454348
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317376.2:p.Ile1109Val
CA16609539
NM_001330447.2:c.3325A>G