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: PA2825151047

Gene: CASR HGNC NCBI

Linked Data

ClinVar Variation Id: 8325

ClinVar RCV Id: RCV000008827

ClinVar Variation Id: 521689

ClinVar RCV Id: RCV000623375

ClinVar Variation Id: 1454775

ClinVar RCV Id: RCV001939580 RCV004044367

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000379.3:p.Phe128Leu	CA119489 NM_000388.4:c.382T>C CA354362784 NM_000388.4:c.384C>A CA354362785 NM_000388.4:c.384C>G