ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645390242
Gene: HGSNAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
363139
ClinVar RCV Id:
RCV000355499
RCV000887168
RCV001256068
RCV003889870
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689632.2:p.Val69Ile
CA4736446
NM_152419.3:c.205G>A