Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2573232914

Gene: ASAH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1402208

ClinVar RCV Id: RCV001906317

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004306.3:p.Gln362Glu	CA370427244 NM_004315.6:c.1084C>G