ClinGen Allele Registry
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Canonical Allele Identifier:
PA060766
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_065191.2:p.Ser672Pro
CA060745
NM_020458.3:c.2014T>C