ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580559520
Gene: KIF7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2049595
ClinVar RCV Id:
RCV002914096
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_940927.2:p.Arg1329Pro
CA7727454
NM_198525.3:c.3986G>C