ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573094200
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_065574.4:p.Glu441Lys
CA257978
NM_020549.5:c.1321G>A