Canonical Allele Identifier: PA1139688249
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3933
ClinVar RCV Id: RCV000004139 RCV001250228
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Met312Arg
CA252931
NM_001318825.2:c.935T>G