ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826846304
Gene: HELQ
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003982500
ClinVar Variation:
3060988
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001284687.2:p.Val269Ile
CA2989900
NM_001297758.2:c.805G>A