ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139693750
Gene: TTC7A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001275880.1:p.Met718Val
CA1648003
NM_001288951.2:c.2152A>G