ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825855148
Gene: CHAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
649407
ClinVar RCV Id:
RCV000804335
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136406.2:p.Glu437Lys
CA5497589
NM_001142934.2:c.1309G>A