ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA311754
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
203231
ClinVar RCV Id:
RCV000185311
RCV000643611
RCV002485260
RCV003486762
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Ser4628Phe
CA311752
NM_001267550.2:c.13883C>T