Canonical Allele Identifier: PA2573199300
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_001305754.1:p.Met312Leu
CA7644869
NM_001318825.2:c.934A>C
CA393062451
NM_001318825.2:c.934A>T