ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830154822
Gene: COL9A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282983
ClinVar RCV Id:
RCV000764653
RCV000344967
RCV002518868
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_511040.2:p.Arg302His
CA3882097
NM_078485.4:c.905G>A