ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA204930
Gene: HGSNAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
208816
ClinVar RCV Id:
RCV000190844
RCV000190845
RCV000224674
RCV000504631
RCV000507277
RCV001003049
RCV001082167
RCV003407694
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689632.2:p.Ala615Thr
CA204929
NM_152419.3:c.1843G>A