Canonical Allele Identifier: PA2825207242
Gene: HEXA HGNC NCBI
ClinVar RCV:
RCV003060421
ClinVar Variation:
2141657
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Tyr400His
CA393061181
NM_000520.6:c.1198T>C