ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825363293
Gene: SPATA7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
427873
ClinVar RCV Id:
RCV000515718
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035518.1:p.Val7Ile
CA501037
NM_001040428.4:c.19G>A