Canonical Allele Identifier: PA2580202896
Gene: HEXA HGNC NCBI
ClinVar RCV:
RCV003060421
ClinVar Variation:
2141657
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Tyr411His
CA393061181
NM_001318825.2:c.1231T>C