Allele Registry

Canonical Allele Identifier: PA096122

Gene: ANKH HGNC NCBI

ClinVar RCV:

RCV000005502

RCV000032998

ClinVar Variation:

5192

HGVS (amino-acid)	Matching Registered Transcripts
NP_473368.1:p.Gly389Arg	CA130551 NM_054027.6:c.1165G>A CA359245168 NM_054027.6:c.1165G>C