ClinGen Allele Registry
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Canonical Allele Identifier:
PA916043682
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_001350156.1:p.Ala644Thr
CA204929
NM_001363227.2:c.1930G>A