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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA138856
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
46646
ClinVar RCV Id:
RCV000039916
RCV000082364
RCV000262868
RCV000302779
RCV000296922
RCV000355321
RCV000342596
RCV001082917
RCV000852901
RCV001798131
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Asn6275Ser
CA138852
NM_001267550.2:c.18824A>G