ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580424670
Gene: CHAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1988713
ClinVar RCV Id:
RCV002781438
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065574.4:p.Val567Met
CA5497598
NM_020549.5:c.1699G>A