Canonical Allele Identifier: PA916022650
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 554702
ClinVar RCV Id: RCV000670378 RCV003155272 RCV003332222
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Ser4Pro
CA7645131
NM_001318825.2:c.10T>C