ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645400478
Gene: ASAH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
362373
ClinVar RCV Id:
RCV000422429
RCV000363473
RCV004549825
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004306.3:p.Val385Ile
CA4650510
NM_004315.6:c.1153G>A