Canonical Allele Identifier: PA2741842318
Gene: NT5C1B-RDH14 HGNC NCBI
ClinVar RCV:
RCV004338803
ClinVar Variation:
2588328
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001186033.1:p.Ile80Thr
CA1542188
NM_001199104.2:c.239T>C