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: PA2825624379

Gene: ASAH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 35544

ClinVar RCV Id: RCV000029199 RCV000724837 RCV001270895

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001120977.1:p.Thr58Ile	CA129940 NM_001127505.3:c.173C>T