ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658827357
Gene: HEXA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000670568
ClinVar Variation:
554863
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000511.2:p.Gly18Glu
CA7645123
NM_000520.6:c.53G>A