ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825837981
Gene: GGCX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1924431
ClinVar RCV Id:
RCV002613775
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135741.1:p.Ser348Phe
CA347486977
NM_001142269.2:c.1043C>T