Canonical Allele Identifier: PA2825206809
Gene: HEXA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Lys224Asn
CA393063420
NM_000520.6:c.672G>T
CA393063421
NM_000520.6:c.672G>C