Canonical Allele Identifier: PA916022755
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 374504
ClinVar RCV Id: RCV000415737 RCV002521471
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Phe445Leu
CA16043770
NM_001318825.2:c.1335C>G
CA393060489
NM_001318825.2:c.1335C>A
CA393060495
NM_001318825.2:c.1333T>C