ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580258888
Gene: COL4A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1712709
ClinVar RCV Id:
RCV002300881
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001836.3:p.Pro1234Leu
CA7047174
NM_001845.6:c.3701C>T