ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829961179
Gene: CHAT
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000019067
RCV001813998
ClinVar Variation:
17515
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066266.4:p.Ile218Thr
CA258002
NM_020986.4:c.653T>C