Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA915977672

Gene: SGCA HGNC NCBI

Linked Data

ClinVar Variation Id: 197618

ClinVar RCV Id: RCV000713237 RCV000852723 RCV001086384 RCV001122688

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001129169.1:p.Arg141Ser	CA245881 NM_001135697.3:c.421C>A