×
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:
PA2826516378
Gene: ACADVL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
474879
ClinVar RCV Id:
RCV000537897
RCV001508431
RCV003258873
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257377.1:p.Ile337Met
CA8338045
NM_001270448.2:c.1011A>G