ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105693
Gene: TTC7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50609
ClinVar RCV Id:
RCV000043554
RCV000432704
RCV003226176
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065191.2:p.Leu823Pro
CA143779
NM_020458.3:c.2468T>C