ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139682221
Gene: GGCX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
995971
ClinVar RCV Id:
RCV001290232
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000812.2:p.Arg513Lys
CA1741791
NM_000821.7:c.1538G>A