ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916016077
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
659290
ClinVar RCV Id:
RCV000816271
RCV003145189
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Pro2876Leu
CA2187488
NM_004369.4:c.8627C>T