ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573094169
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_065574.4:p.Leu249Val
CA209681
NM_020549.5:c.745C>G