Canonical Allele Identifier: PA2580202953
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 2002301
ClinVar RCV Id: RCV002820299
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Met470Ile
CA393059215
NM_001318825.2:c.1410G>T
CA393059216
NM_001318825.2:c.1410G>C
CA393059218
NM_001318825.2:c.1410G>A