ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913191434
Gene: COL1A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000080.2:p.Gly406Ser
CA162921612
NM_000089.4:c.1216G>A