ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829525058
Gene: ASAH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1414186
ClinVar RCV Id:
RCV001945224
RCV002556384
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004306.3:p.Ile146Phe
CA370431840
NM_004315.6:c.436A>T