Canonical Allele Identifier: PA2825206885
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 1704300
ClinVar RCV Id: RCV003149021

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.His262Gln
CA393063024
NM_000520.6:c.786C>A
CA393063025
NM_000520.6:c.786C>G