ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA113255
Gene: GNPTAB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077288.2:p.Arg334Leu
CA343332
NM_024312.5:c.1001G>T