ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916055594
Gene: COG7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_705831.1:p.Ala658Thr
CA7960824
NM_153603.4:c.1972G>A