ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580251883
Gene: TTC7B
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV004209154
ClinVar Variation:
2377766
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001388294.1:p.Ala522Gly
CA7306254
NM_001401365.1:c.1565C>G