ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916054509
Gene: COL6A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003764644
ClinVar Variation:
36916
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_478055.2:p.Val619_Ile620del
CA260566
NM_058175.3:c.1856_1861del