Canonical Allele Identifier: PA645511059
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 438810
ClinVar RCV Id: RCV000505693 RCV000757370 RCV000781461 RCV001252516 RCV003902807
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Ser3Thr
CA7645132
NM_000520.6:c.8G>C