Canonical Allele Identifier: PA2825206975
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 1437760
ClinVar RCV Id: RCV001934095
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Met301Leu
CA7644869
NM_000520.6:c.901A>C
CA393062451
NM_000520.6:c.901A>T