Canonical Allele Identifier: PA2826816811
Gene: HEXB HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278933.1:p.Gln254His
CA3306154
NM_001292004.1:c.762A>C
CA360070786
NM_001292004.1:c.762A>T