ClinGen Allele Registry
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Canonical Allele Identifier:
PA645378935
Gene: IBA57
HGNC
NCBI
Linked Data
ClinVar Variation Id:
379988
ClinVar RCV Id:
RCV000439267
RCV000676869
RCV001702642
RCV001515780
RCV001702443
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001010867.1:p.Gly211Ser
CA1431197
NM_001010867.4:c.631G>A