Canonical Allele Identifier: PA645468339
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 375354
ClinVar RCV Id: RCV000416461
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Val206Leu
CA16044207
NM_000520.6:c.616G>C
CA393063646
NM_000520.6:c.616G>T