ClinGen Allele Registry
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Canonical Allele Identifier:
PA916017093
Gene: TTC7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
242605
ClinVar RCV Id:
RCV000428092
RCV001280648
RCV001081100
RCV003227730
RCV003919993
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001275880.1:p.Ser696Pro
CA060745
NM_001288951.2:c.2086T>C