ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828082235
Gene: HGSNAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
422050
ClinVar RCV Id:
RCV000478090
RCV000626050
RCV001074815
RCV001865466
RCV003330719
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350156.1:p.Gly423Trp
CA16618645
NM_001363227.2:c.1267G>T