ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825624367
Gene: ASAH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
93
ClinVar RCV Id:
RCV000000113
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120977.1:p.Tyr52Cys
CA113842
NM_001127505.3:c.155A>G