ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828082454
Gene: HGSNAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
452146
ClinVar RCV Id:
RCV000522887
RCV001829521
RCV002525229
RCV003889920
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350157.1:p.Val87Ile
CA4736463
NM_001363228.2:c.259G>A