ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658666947
Gene: COL4A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
451373
ClinVar RCV Id:
RCV000522617
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001836.3:p.Met1666Val
CA388653462
NM_001845.6:c.4996A>G