ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830369193
Gene: ASAH1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000363473
RCV000422429
RCV004549825
ClinVar Variation:
362373
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_808592.2:p.Val369Ile
CA4650510
NM_177924.5:c.1105G>A