ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091257
Gene: SGCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
167677
ClinVar RCV Id:
RCV000179241
RCV000710212
RCV000779226
RCV002271422
RCV002252007
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000014.1:p.Val247Met
CA203189
NM_000023.3:c.739G>A