ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828108585
Gene: ASAH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2148122
ClinVar RCV Id:
RCV003068692
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350672.1:p.Glu193Val
CA370429273
NM_001363743.1:c.578A>T