Canonical Allele Identifier: PA341974
Gene: TFR2 HGNC NCBI
ClinVar Allele:
34215
ClinVar RCV:
RCV000020535
ClinVar Variation:
21363
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003218.2:p.Asn412del
CA341972
NM_003227.4:c.1235_1237del