ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825624817
Gene: ASAH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1398318
ClinVar RCV Id:
RCV001922542
RCV002482757
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120977.1:p.Ser256Cys
CA370429239
NM_001127505.3:c.766A>T