ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828108549
Gene: ASAH1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000000111
ClinVar Variation:
91
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350672.1:p.Thr157Lys
CA113838
NM_001363743.1:c.470C>A