ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573066030
Gene: CHAT
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
460334
ClinVar RCV:
RCV000537233
RCV004023854
ClinVar Variation:
461459
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136405.2:p.Thr27Met
CA5497091
NM_001142933.2:c.80C>T