ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826746536
Gene: TTC7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
458800
ClinVar RCV Id:
RCV000552097
RCV001532402
RCV002060296
RCV002528316
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001275880.1:p.Arg146Leu
CA1647159
NM_001288951.2:c.437G>T