ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658706176
Gene: COL4A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000590892
ClinVar Variation:
496641
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001836.3:p.Gly948Ser
CA388666800
NM_001845.6:c.2842G>A