×
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:
PA101077
Gene: CPT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8954
ClinVar RCV Id:
RCV000009511
RCV000009512
RCV000202440
RCV000440440
RCV000762941
RCV000735345
RCV003473063
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000089.1:p.Pro50His
CA254606
NM_000098.3:c.149C>A