Canonical Allele Identifier: PA2826142472
Gene: HADH HGNC NCBI

Linked Data

ClinVar Variation Id: 402187
ClinVar RCV Id: RCV000454321
ClinVar Variation Id: 652881
ClinVar RCV Id: RCV000808541 RCV001143928 RCV003437431 RCV003222136
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171634.3:p.Val117Leu
CA3037435
NM_001184705.4:c.349G>C
CA16609507
NM_001184705.4:c.349G>T