ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645390432
Gene: HGSNAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
265483
ClinVar RCV Id:
RCV000255417
RCV000587936
RCV000665568
RCV000763185
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689632.2:p.Glu471Lys
CA4736872
NM_152419.3:c.1411G>A