Canonical Allele Identifier: PA2741861475
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 2584782
ClinVar RCV Id: RCV003340681
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Glu454Asp
CA393060300
NM_001318825.2:c.1362A>T
CA393060302
NM_001318825.2:c.1362A>C