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: PA916065760

Gene: CAPN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 217148

ClinVar RCV Id: RCV000201177 RCV000762947 RCV001781585 RCV003235123 RCV003462346

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_775110.1:p.Ala45Thr	CA347575 NM_173087.2:c.133G>A