×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA118659
Gene: DNM2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7280
ClinVar RCV Id:
RCV000007703
RCV000145899
RCV000641108
RCV001027496
RCV001537068
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005361.1:p.Arg369Trp
CA118658
NM_001005361.3:c.1105C>T