Canonical Allele Identifier: PA2580202865
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 2069681
ClinVar RCV Id: RCV002962364 RCV004526951
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Val383Leu
CA7644798
NM_001318825.2:c.1147G>T
CA393061718
NM_001318825.2:c.1147G>C