ClinGen Allele Registry
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Canonical Allele Identifier:
PA302742
Gene: COL5A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000032106
RCV000174444
RCV000349789
RCV000587214
RCV000659443
RCV001507191
RCV002269821
RCV002277113
RCV002313725
RCV002490441
ClinVar Variation:
38863
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265003.1:p.Gly530Ser
CA302741
NM_001278074.1:c.1588G>A