ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830369033
Gene: ASAH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1917303
ClinVar RCV Id:
RCV002598162
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_808592.2:p.Ser260Gly
CA370429259
NM_177924.5:c.778A>G