Canonical Allele Identifier: PA2825207403
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_000511.2:p.Met459Ile
CA393059215
NM_000520.6:c.1377G>T
CA393059216
NM_000520.6:c.1377G>C
CA393059218
NM_000520.6:c.1377G>A