Canonical Allele Identifier: PA2825207306
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 2168883
ClinVar RCV Id: RCV003082791
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Arg424Cys
CA393060692
NM_000520.6:c.1270C>T