ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829179949
Gene: HTT
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000477706
RCV001851126
ClinVar Variation:
417742
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001375421.1:p.Pro703Leu
CA2823749
NM_001388492.1:c.2108C>T