ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825624923
Gene: ASAH1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000000114
ClinVar Variation:
94
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120977.1:p.Asn314Asp
CA113844
NM_001127505.3:c.940A>G