ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA202232
Gene: SGCB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
42035
ClinVar RCV Id:
RCV000177020
RCV000271872
RCV000340831
RCV001267013
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000223.1:p.Ser114Phe
CA202230
NM_000232.5:c.341C>T