Canonical Allele Identifier: PA658827379
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 550606
ClinVar RCV Id: RCV000665394
ClinVar Variation Id: 2445714
ClinVar RCV Id: RCV003155633

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Gln336His
CA393061972
NM_000520.6:c.1008G>T
CA393061973
NM_000520.6:c.1008G>C