ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645408952
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
404721
ClinVar RCV Id:
RCV000464192
RCV001561236
RCV001527012
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Ser5517Leu
CA2002023
NM_001267550.2:c.16550C>T