ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA258557
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2138696
ClinVar RCV Id:
RCV003050647
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203699.1:p.Pro619Leu
CA258555
NM_033380.3:c.1856C>T