ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645427805
Gene: HESX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
267733
ClinVar RCV Id:
RCV000258196
RCV000584901
RCV000583982
RCV001317207
RCV001849354
RCV003947822
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003856.1:p.Val129Ile
CA2463250
NM_003865.3:c.385G>A