Canonical Allele Identifier: PA2499234439
Gene: PDHB HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000916.2:p.Arg145Lys
CA353361857
NM_000925.4:c.434G>A
CA2499216972
NM_000925.4:c.434_435delinsAG