ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573094168
Gene: CHAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
128726
ClinVar RCV Id:
RCV000116699
RCV000552676
RCV000676664
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065574.4:p.Leu243Phe
CA152358
NM_020549.5:c.727C>T