ClinGen Allele Registry
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Canonical Allele Identifier:
PA916046083
Gene: PAX4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000014800
RCV001851858
RCV002227035
RCV002247339
ClinVar Variation:
13790
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001353040.1:p.Arg129Trp
CA123473
NM_001366111.1:c.385C>T