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: PA2825206228

Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 2148412

ClinVar RCV Id: RCV003063381

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Leu6Arg	CA393070848 NM_000520.6:c.17T>G