ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645400472
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_004306.3:p.Gly251Asp
CA10630531
NM_004315.6:c.752G>A