ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826747170
Gene: TTC7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
528464
ClinVar RCV Id:
RCV000633669
RCV002291285
RCV002265829
RCV002492961
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001275882.1:p.Arg291Gln
CA1647421
NM_001288953.2:c.872G>A