ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA246775
Gene: SPATA7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198231
ClinVar RCV Id:
RCV000179503
RCV000289051
RCV000642677
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060888.2:p.Arg272Gln
CA246774
NM_018418.5:c.815G>A