Canonical Allele Identifier: PA099440
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3895
ClinVar RCV Id: RCV000004099 RCV000409695 RCV001800288
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Arg504His
CA116497
NM_000520.6:c.1511G>A