ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825197691
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
266003
ClinVar RCV Id:
RCV000256382
RCV000615013
RCV000913619
RCV003955417
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000486.1:p.Met163Thr
CA10488477
NM_000495.4:c.488T>C