ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825624811
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_001120977.1:p.Ser254Gly
CA370429259
NM_001127505.3:c.760A>G