ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825854520
Gene: CHAT
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000019066
ClinVar Variation:
17514
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136405.2:p.Arg338Cys
CA257999
NM_001142933.2:c.1012C>T