Canonical Allele Identifier: PA2741861442
Gene: HEXA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Asn343Lys
CA393062000
NM_001318825.2:c.1029C>G
CA393062001
NM_001318825.2:c.1029C>A