ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573208760
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_001350672.1:p.Tyr72Asn
CA370431728
NM_001363743.1:c.214T>A