ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645454000
Gene: COL1A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
425649
ClinVar RCV Id:
RCV000490730
RCV000594712
RCV001849383
RCV002230966
RCV003139688
RCV003152709
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000080.2:p.Gly601Ser
CA162929069
NM_000089.4:c.1801G>A