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: PA243007

Gene: PLEC HGNC NCBI

Linked Data

ClinVar Variation Id: 196148

ClinVar RCV Id: RCV000176898 RCV000555351 RCV001721113

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000436.2:p.Arg1287Gly	CA243000 NM_000445.4:c.3859C>G