ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829781847
Gene: HELZ
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3105107
ClinVar RCV Id:
RCV004403948
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055692.3:p.Tyr1098His
CA400711196
NM_014877.4:c.3292T>C