Allele Registry

Canonical Allele Identifier: PA124654

Gene: HBD HGNC NCBI

ClinVar RCV:

RCV000016198

ClinVar Variation:

15052

HGVS (amino-acid)	Matching Registered Transcripts
NP_000510.1:p.Glu44Lys	CA124653 NM_000519.4:c.130G>A