ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA140003
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
47097
ClinVar RCV Id:
RCV000040367
RCV000172661
RCV000260976
RCV000341213
RCV000316224
RCV000388261
RCV000375984
RCV001086441
RCV002433515
RCV001798161
RCV004528210
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Pro18273Leu
CA139999
NM_001267550.2:c.54818C>T