ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112384
Gene: HESX1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000008131
RCV000729620
RCV002512890
ClinVar Variation:
7692
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003856.1:p.Ser170Leu
CA119000
NM_003865.3:c.509C>T