ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829960194
Gene: CHAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430062
ClinVar RCV Id:
RCV000494066
RCV000813390
RCV002469176
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066265.4:p.Met84Arg
CA5497200
NM_020985.4:c.251T>G