ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825138672
Gene: PAX6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1385887
ClinVar RCV Id:
RCV001871471
RCV002478248
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000271.1:p.Pro172_Gln174del
CA5933863
NM_000280.6:c.514_522del