Canonical Allele Identifier: PA2825207243
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 2168889
ClinVar RCV Id: RCV003082796

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Glu403Asp
CA393061103
NM_000520.6:c.1209G>T
CA393061106
NM_000520.6:c.1209G>C