ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091247
Gene: SGCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281027
ClinVar RCV Id:
RCV000284145
RCV001194148
RCV001377411
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000014.1:p.Leu173Pro
CA8643817
NM_000023.3:c.518T>C