ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829959842
Gene: CHAT
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000195092
RCV000533227
RCV001721249
RCV003895243
ClinVar Variation:
210707
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066264.4:p.Leu131Val
CA209681
NM_020984.4:c.391C>G