Canonical Allele Identifier: PA2825207361
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 2584782
ClinVar RCV Id: RCV003340681
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Glu443Asp
CA393060300
NM_000520.6:c.1329A>T
CA393060302
NM_000520.6:c.1329A>C