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: PA2826816696

Gene: HEXB HGNC NCBI

Linked Data

ClinVar Variation Id: 518368

ClinVar RCV Id: RCV000612023 RCV001573050 RCV001797763

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001278933.1:p.Val14Ile	CA3305918 NM_001292004.1:c.40G>A