Canonical Allele Identifier: PA2825207388
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 2415082
ClinVar RCV Id: RCV003110501
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Lys449Arg
CA7644712
NM_000520.6:c.1346A>G