ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA139315
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
46837
ClinVar RCV Id:
RCV000040107
RCV000260855
RCV000262132
RCV000253899
RCV000353220
RCV000385979
RCV000300682
RCV000475078
RCV001170630
RCV000725352
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Thr10162Met
CA139313
NM_001267550.2:c.30485C>T