ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573232805
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_004306.3:p.Lys259Met
CA173141483
NM_004315.6:c.776A>T