ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828108533
Gene: ASAH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
362377
ClinVar RCV Id:
RCV000332641
RCV000709958
RCV000656012
RCV002523651
RCV000853063
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350672.1:p.Tyr142Phe
CA4650766
NM_001363743.1:c.425A>T