ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825854635
Gene: CHAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
461451
ClinVar RCV Id:
RCV000553566
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136405.2:p.Pro470Ser
CA5497585
NM_001142933.2:c.1408C>T