ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645453860
Gene: COL1A2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000080.2:p.Gly352Ser
NM_000089.4:c.1054G>A