ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499294993
Gene: COL4A5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001391152
ClinVar Variation:
1077046
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203699.1:p.Gly716Ser
CA413847104
NM_033380.3:c.2146G>A