Canonical Allele Identifier: PA2826233343
Gene: NT5C1B-RDH14 HGNC NCBI
ClinVar RCV:
RCV004198263
ClinVar Variation:
2358408
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001186033.1:p.Met320Ile
CA1541928
NM_001199104.2:c.960G>T
CA1541929
NM_001199104.2:c.960G>C
CA1541930
NM_001199104.2:c.960G>A