ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645434286
Gene: COL4A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426788
ClinVar RCV Id:
RCV000489475
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001837.2:p.Ser576Asn
CA388738876
NM_001846.4:c.1727G>A