ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645451865
Gene: COL1A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
425640
ClinVar RCV Id:
RCV000490675
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Gly284Ala
CA291547382
NM_000088.4:c.851G>C