ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916017115
Gene: TTC7A
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001275880.1:p.Gln848Ter
NM_001288951.2:c.2542C>T