ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825363589
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_001035518.1:p.Arg240Gln
CA246774
NM_001040428.4:c.719G>A