ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742006795
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_598375.3:p.Val306Ile
CA2989900
NM_133636.5:c.916G>A