ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826621289
Gene: PAX5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135000
ClinVar RCV Id:
RCV000121767
RCV000961927
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001267485.1:p.Val43Ile
CA161365
NM_001280556.2:c.127G>A