ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825624527
Gene: ASAH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1414058
ClinVar RCV Id:
RCV001945179
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120977.1:p.Tyr131Asn
CA370431728
NM_001127505.3:c.391T>A