ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830368852
Gene: ASAH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1414058
ClinVar RCV Id:
RCV001945179
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_808592.2:p.Tyr137Asn
CA370431728
NM_177924.5:c.409T>A