Canonical Allele Identifier: PA099633
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3927
ClinVar RCV Id: RCV000004133 RCV000674617 RCV001508770 RCV001797585
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Lys197Thr
CA116510
NM_000520.6:c.590A>C