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: PA283395

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 47053

ClinVar RCV Id: RCV000040323 RCV000244693 RCV000301448 RCV000356210 RCV000370266 RCV000396718 RCV000406062 RCV000468433 RCV001572718

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_596869.4:p.Ala14593Val	CA283393 NM_133378.4:c.43778C>T