ClinGen Allele Registry
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Canonical Allele Identifier:
PA060669
Gene: TTC7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
242606
ClinVar RCV Id:
RCV000427110
RCV001280647
RCV001081099
RCV003227731
RCV003919994
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001275882.1:p.Lys572Arg
CA060659
NM_001288953.2:c.1715A>G