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: PA181939

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 178257

ClinVar RCV Id: RCV000154998 RCV000172703 RCV000621842 RCV000852922 RCV001085765 RCV001798510

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001254479.2:p.Val4250Met	CA181936 NM_001267550.2:c.12748G>A