Canonical Allele Identifier: PA2825207488
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 2097536
ClinVar RCV Id: RCV003006381
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Phe503Leu
CA393058518
NM_000520.6:c.1509C>G
CA393058519
NM_000520.6:c.1509C>A
CA393058529
NM_000520.6:c.1507T>C