ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573232806
Gene: ASAH1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_004306.3:p.Lys260Asn
NM_004315.6:c.780A>C
NM_004315.6:c.780A>T