ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830368847
Gene: ASAH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1414186
ClinVar RCV Id:
RCV001945224
RCV002556384
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_808592.2:p.Ile130Phe
CA370431840
NM_177924.5:c.388A>T