ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826747022
Gene: TTC7A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000552097
RCV001532402
RCV002060296
RCV002528316
ClinVar Variation:
458800
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001275882.1:p.Arg112Leu
CA1647159
NM_001288953.2:c.335G>T