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: PA645410675

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 238827

ClinVar RCV Id: RCV000226664 RCV000304565 RCV000620279 RCV000725486 RCV000765557

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001254479.2:p.Ala22144Thr	CA1991530 NM_001267550.2:c.66430G>A