Canonical Allele Identifier: PA916022710
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 375354
ClinVar RCV Id: RCV000416461
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Val217Leu
CA16044207
NM_001318825.2:c.649G>C
CA393063646
NM_001318825.2:c.649G>T