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: PA2825206220

Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 2164861

ClinVar RCV Id: RCV003088250

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Ser4dup	CA2186761511 NM_000520.6:c.10_12dup