ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA140707
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
47330
ClinVar RCV Id:
RCV000040600
RCV000172466
RCV000467881
RCV000852931
RCV001131310
RCV001131307
RCV001131308
RCV001131309
RCV001131311
RCV001798179
RCV002362635
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596870.2:p.Thr2238Met
CA140701
NM_133379.5:c.6713C>T