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: PA232535

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 137833

ClinVar RCV Id: RCV000126052 RCV000154636 RCV001080034 RCV001840016 RCV001840017 RCV001840018 RCV001840019

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001254479.2:p.Ser3644Asn	CA232533 NM_001267550.2:c.10931G>A