Canonical Allele Identifier: PA658735025
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 493161
ClinVar RCV Id: RCV000584891 RCV001052312
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Trp24Cys
CA393070656
NM_000520.6:c.72G>T
CA393070658
NM_000520.6:c.72G>C