ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA181939
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000154998
RCV000172703
RCV000621842
RCV000852922
RCV001085765
RCV001798510
ClinVar Variation:
178257
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Val4250Met
CA181936
NM_001267550.2:c.12748G>A