ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA241254
Gene: KIF7
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000175498
RCV000529413
RCV001200207
ClinVar Variation:
195000
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_940927.2:p.Pro1315Leu
CA020390
NM_198525.3:c.3944C>T