Canonical Allele Identifier: PA913194797
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 618678
ClinVar RCV Id: RCV000757371
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Pro446Arg
CA393059388
NM_000520.6:c.1337C>G