Canonical Allele Identifier: PA916022706
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_001305754.1:p.Lys208Thr
CA116510
NM_001318825.2:c.623A>C