ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658831490
Gene: TTC7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
190395
ClinVar RCV Id:
RCV000170533
RCV003226234
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065191.2:p.Glu71Lys
CA199689
NM_020458.3:c.211G>A