ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825854643
Gene: CHAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
461452
ClinVar RCV Id:
RCV000529557
RCV001557756
RCV003479154
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136405.2:p.Ala475Thr
CA5497591
NM_001142933.2:c.1423G>A