Canonical Allele Identifier: PA2825207283
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 1907101
ClinVar RCV Id: RCV002589229
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Ala418Ser
CA393060813
NM_000520.6:c.1252G>T