Canonical Allele Identifier: PA2825206211
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 644889
ClinVar RCV Id: RCV000798879
ClinVar Variation Id: 2829890
ClinVar RCV Id: RCV003610445

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Met1Ile