Canonical Allele Identifier: PA2825206993
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 2086529
ClinVar RCV Id: RCV003007530
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Phe305Leu
CA393062386
NM_000520.6:c.915C>G
CA393062388
NM_000520.6:c.915C>A
CA393062398
NM_000520.6:c.913T>C