ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830369004
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_808592.2:p.Gly235Asp
CA10630531
NM_177924.5:c.704G>A