ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830154966
Gene: COL9A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000251679
RCV000710922
ClinVar Variation:
258358
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_511040.2:p.Met524Val
CA3881803
NM_078485.4:c.1570A>G