ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829952206
Gene: CHAT
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000019059
ClinVar Variation:
17507
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066264.4:p.Glu323Lys
CA257978
NM_020984.4:c.967G>A