ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113841
Gene: ASAH1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000000112
RCV000853547
ClinVar Variation:
92
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004306.3:p.Glu154Val
CA113840
NM_004315.6:c.461A>T