ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573066033
Gene: CHAT
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000116697
RCV000676662
RCV001519257
ClinVar Variation:
128724
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136405.2:p.Ala38Thr
CA152352
NM_001142933.2:c.112G>A