ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830369010
Gene: ASAH1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002030753
ClinVar Variation:
1486819
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_808592.2:p.Lys243Met
CA173141483
NM_177924.5:c.728A>T