ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499259226
Gene: COL4A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1027964
ClinVar RCV Id:
RCV001328882
RCV001507833
RCV001849505
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001836.3:p.Lys1235Arg
CA7047173
NM_001845.6:c.3704A>G