Canonical Allele Identifier: PA252923
Gene: HEXA HGNC NCBI
ClinVar Allele:
18953
ClinVar RCV:
RCV000004120
ClinVar Variation:
3914
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Met1Val