Canonical Allele Identifier: PA2825207053
Gene: HEXA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Asn332Lys
CA393062000
NM_000520.6:c.996C>G
CA393062001
NM_000520.6:c.996C>A