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: PA2825151565

Gene: CASR HGNC NCBI

Linked Data

ClinVar Variation Id: 196262

ClinVar RCV Id: RCV000177056 RCV000295987 RCV000325278 RCV000331288 RCV000513760 RCV000987311 RCV001081445 RCV002257478 RCV004020102 RCV002492770

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000379.3:p.Glu250Lys	CA202250 NM_000388.4:c.748G>A