Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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Canonical Allele Identifier: PA2580203022

Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 2097536

ClinVar RCV Id: RCV003006381

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Phe514Leu	CA393058518 NM_001318825.2:c.1542C>G CA393058519 NM_001318825.2:c.1542C>A CA393058529 NM_001318825.2:c.1540T>C