Canonical Allele Identifier: PA2825207458
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 2121072
ClinVar RCV Id: RCV003027898

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Leu489Phe
CA393058736
NM_000520.6:c.1467G>T
CA393058737
NM_000520.6:c.1467G>C