Canonical Allele Identifier: PA645468438
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 374504
ClinVar RCV Id: RCV000415737 RCV002521471
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Phe434Leu
CA16043770
NM_000520.6:c.1302C>G
CA393060489
NM_000520.6:c.1302C>A
CA393060495
NM_000520.6:c.1300T>C