ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: HEXA
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
ENSP00000507004.1:p.Met222Leu
CA7644936
ENST00000683884.1:c.664A>C
CA7644937
ENST00000683884.1:c.664A>T