ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091250
Gene: SGCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289794
ClinVar RCV Id:
RCV000442753
RCV000675091
RCV003317182
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000014.1:p.Pro205His
CA501043
NM_000023.3:c.614C>A