ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830248502
Gene: RFXANK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
538596
ClinVar RCV Id:
RCV000647953
RCV003945639
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_604389.1:p.Asp126Asn
CA9322769
NM_134440.3:c.376G>A