Allele Registry

Canonical Allele Identifier: PA2580456693

Gene: GNPTAB HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_077288.2:p.Phe3Leu	CA6747031 NM_024312.5:c.9C>G CA386487094 NM_024312.5:c.9C>A CA386487099 NM_024312.5:c.7T>C