ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580488739
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1981498
ClinVar RCV Id:
RCV002751508
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203699.1:p.Asn616Tyr
CA10488802
NM_033380.3:c.1846A>T