ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828108564
Gene: ASAH1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000367143
RCV000853060
ClinVar Variation:
362375
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350672.1:p.Gly170Asp
CA10630531
NM_001363743.1:c.509G>A