ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA246520
Gene: SGCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198033
ClinVar RCV Id:
RCV000248171
RCV000700385
RCV000724711
RCV001123795
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000014.1:p.Pro227Arg
CA246518
NM_000023.3:c.680C>G