ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658827553
Gene: COL4A4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000673217
RCV001333199
RCV001855593
ClinVar Variation:
557121
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000083.3:p.Gly748Ser
CA2144855
NM_000092.5:c.2242G>A