ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825854539
Gene: CHAT
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000019059
ClinVar Variation:
17507
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136405.2:p.Glu359Lys
CA257978
NM_001142933.2:c.1075G>A