Canonical Allele Identifier: PA915958560
Gene: HEXB HGNC NCBI

Linked Data

ClinVar Variation Id: 3878
ClinVar RCV Id: RCV000004082 RCV000004084 RCV000079058 RCV000174009 RCV002251870 RCV003407272 RCV004018549
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000512.2:p.Pro417Leu
CA116485
NM_000521.4:c.1250C>T