×
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:
PA100160
Gene: CPT1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9071
ClinVar RCV Id:
RCV000009638
RCV000723829
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001867.2:p.Gly710Glu
CA340863
NM_001876.4:c.2129G>A