ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658817580
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
542954
ClinVar RCV Id:
RCV000653502
RCV000730640
RCV001139020
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Asn1311Ser
CA2189041
NM_004369.4:c.3932A>G