ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825207236
Gene: HEXA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2168891
ClinVar RCV Id:
RCV003100473
RCV004073239
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000511.2:p.Asn399Ser
CA7644758
NM_000520.6:c.1196A>G