ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645434327
Gene: COL4A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000224185
RCV000339830
ClinVar Variation:
235684
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001837.2:p.Lys701Arg
CA7049850
NM_001846.4:c.2102A>G