ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA139847
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
47045
ClinVar RCV Id:
RCV000040315
RCV000618209
RCV000726235
RCV001086999
RCV001170833
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Glu14250Lys
CA139845
NM_133378.4:c.42748G>A