ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645434265
Gene: COL4A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001837.2:p.Arg517Lys
CA7049619
NM_001846.4:c.1550G>A