ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573161306
Gene: COL1A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1432099
ClinVar RCV Id:
RCV001941098
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Gly305Ser
CA291547228
NM_000088.4:c.913G>A