ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827349810
Gene: SOX5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2444597
ClinVar RCV Id:
RCV003154116
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317714.1:p.Met1Ile