ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825624802
Gene: ASAH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
812478
ClinVar RCV Id:
RCV001003307
RCV003558631
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120977.1:p.Arg248Gly
CA370429322
NM_001127505.3:c.742A>G