Canonical Allele Identifier: PA916022645
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_001305754.1:p.Met1Ile
CA393070905
NM_001318825.2:c.3G>T
CA393070907
NM_001318825.2:c.3G>C
CA393070909
NM_001318825.2:c.3G>A