ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829180282
Gene: HTT
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002092237
ClinVar Variation:
1531045
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001375421.1:p.Val2786Ile
CA2825672
NM_001388492.1:c.8356G>A