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: PA2825206402

Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 1490873

ClinVar RCV Id: RCV001986109

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Ala53Ser	CA393070350 NM_000520.6:c.157G>T