ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826747335
Gene: TTC7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
528460
ClinVar RCV Id:
RCV000633665
RCV002529818
RCV003224355
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001275882.1:p.Val511Ile
CA1647774
NM_001288953.2:c.1531G>A