ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580258887
Gene: COL4A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2067449
ClinVar RCV Id:
RCV002953960
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001836.3:p.Thr1231Met
CA7047176
NM_001845.6:c.3692C>T