Allele Registry

Canonical Allele Identifier: PA2826818876

Gene: HSD17B4 HGNC NCBI

ClinVar RCV:

RCV002518408

RCV003463693

ClinVar Variation:

242582

HGVS (amino-acid)	Matching Registered Transcripts
NP_001278956.1:p.Trp249Cys	CA052835 NM_001292027.2:c.747G>T CA360867312 NM_001292027.2:c.747G>C