Canonical Allele Identifier: PA2829424163
Gene: TFR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 990095
ClinVar RCV Id: RCV001278037

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003218.2:p.Asp230Glu
CA4386752
NM_003227.4:c.690C>G
CA368534287
NM_003227.4:c.690C>A