ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA302480
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
191944
ClinVar RCV Id:
RCV000172312
RCV000242658
RCV000259186
RCV000313378
RCV000354316
RCV000312071
RCV000366773
RCV000277068
RCV000395819
RCV000768993
RCV001082395
RCV004535173
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Leu18237Pro
CA302477
NM_001267550.2:c.54710T>C