ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645509877
Gene: TTC7A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_065191.2:p.Gln824Ter
NM_020458.3:c.2470C>T