ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645390440
Gene: HGSNAT
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
314601
ClinVar RCV:
RCV000398564
RCV000534224
RCV000592259
RCV000675865
ClinVar Variation:
363150
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689632.2:p.Lys523Gln
CA4736955
NM_152419.3:c.1567A>C