ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645453817
Gene: COL1A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000490758
RCV003766738
ClinVar Variation:
425662
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000080.2:p.Gly286Ser
CA368220655
NM_000089.4:c.856G>A