ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826747719
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_001275884.1:p.Lys252Arg
CA060659
NM_001288955.2:c.755A>G