ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA179399
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
166345
ClinVar RCV Id:
RCV000152522
RCV000643740
RCV000726122
RCV001130241
RCV001130243
RCV001130245
RCV001130242
RCV001130244
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Pro581Leu
CA179396
NM_001267550.2:c.1742C>T