Canonical Allele Identifier: PA2573070730
Gene: HADH HGNC NCBI

Linked Data

ClinVar Variation Id: 211127
ClinVar RCV Id: RCV000194877 RCV000757347 RCV000764522 RCV001086439 RCV001143929 RCV000664100 RCV003907686
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317956.2:p.Gln156His
CA209330
NM_001331027.2:c.468G>T
CA357832852
NM_001331027.2:c.468G>C