Allele Registry

Canonical Allele Identifier: PA253427

Gene: ANKH HGNC NCBI

ClinVar Allele:

20233

ClinVar RCV:

RCV000005504

RCV001090992

ClinVar Variation:

5194

HGVS (amino-acid)	Matching Registered Transcripts
NP_473368.1:p.Ser375del	CA253426 NM_054027.6:c.1124_1126del