ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828108569
Gene: ASAH1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002030753
ClinVar Variation:
1486819
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350672.1:p.Lys178Met
CA173141483
NM_001363743.1:c.533A>T