ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741888580
Gene: COL4A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2697058
ClinVar RCV Id:
RCV003543781
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001836.3:p.Pro1247Leu
CA7047163
NM_001845.6:c.3740C>T