Canonical Allele Identifier: PA2825206805
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 1475647
ClinVar RCV Id: RCV001976402
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Met222Leu
CA7644936
NM_000520.6:c.664A>C
CA7644937
NM_000520.6:c.664A>T