Canonical Allele Identifier: PA146733
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 93189
ClinVar RCV Id: RCV000079049 RCV000283218 RCV000675467
ClinVar Variation Id: 697284
ClinVar RCV Id: RCV001399181
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Ile436Val
CA146732
NM_000520.6:c.1306A>G
CA915946066
NM_000520.6:c.1305_1306delinsTG