Allele Registry

Canonical Allele Identifier: PA2826248617

Gene: HPSE HGNC NCBI

ClinVar RCV:

RCV003982087

ClinVar Variation:

3060058

HGVS (amino-acid)	Matching Registered Transcripts
NP_001186759.1:p.Lys249Arg	CA2988977 NM_001199830.1:c.746A>G