ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA139801
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
47025
ClinVar RCV Id:
RCV000040295
RCV000172665
RCV000247886
RCV000655929
RCV000768997
RCV001083138
RCV001131281
RCV001131282
RCV001130555
RCV001131280
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Ile16318Thr
CA139797
NM_001267550.2:c.48953T>C