ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA179025
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
166234
ClinVar RCV Id:
RCV000152417
RCV000545106
RCV003884364
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Ile4422Ser
CA179023
NM_001267550.2:c.13265T>G