Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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Canonical Allele Identifier: PA2825624525

Gene: ASAH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 812474

ClinVar RCV Id: RCV001003302

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001120977.1:p.Phe130Leu	CA370431729 NM_001127505.3:c.390T>G CA370431730 NM_001127505.3:c.390T>A CA370431742 NM_001127505.3:c.388T>C