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: PA645468208

Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 288069

ClinVar RCV Id: RCV000261357 RCV000670556

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Ala13Val	CA7645126 NM_000520.6:c.38C>T