ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3064044963
Gene: TCHH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009044.2:p.Gln331Glu
CA1099029
NM_007113.3:c.991C>G