Canonical Allele Identifier: PA2825300258
Gene: TTC7B HGNC NCBI
ClinVar RCV:
RCV004209154
ClinVar Variation:
2377766
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001010854.1:p.Ala522Gly
CA7306254
NM_001010854.2:c.1565C>G