ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580300863
Gene: ASAH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1917303
ClinVar RCV Id:
RCV002598162
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004306.3:p.Ser276Gly
CA370429259
NM_004315.6:c.826A>G