ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829903854
Gene: SPATA7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060888.2:p.Pro129Leu
CA7298528
NM_018418.5:c.386C>T