ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA060706
Gene: TTC7A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000427110
RCV001081099
RCV001280647
RCV003227731
RCV003919994
ClinVar Variation:
242606
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065191.2:p.Lys606Arg
CA060659
NM_020458.3:c.1817A>G