×
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:
PA645404575
Gene: MATR3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
351136
ClinVar RCV Id:
RCV000326793
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_954659.1:p.Ser748Pro
CA3433397
NM_199189.3:c.2242T>C