ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916017114
Gene: TTC7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50609
ClinVar RCV Id:
RCV000043554
RCV000432704
RCV003226176
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001275880.1:p.Leu847Pro
CA143779
NM_001288951.2:c.2540T>C