ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA181992
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
178272
ClinVar RCV Id:
RCV000155013
RCV000172478
RCV000464939
RCV000769134
RCV002354371
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Ala1385Thr
CA181990
NM_001267550.2:c.4153G>A