ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645454045
Gene: COL1A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000080.2:p.Arg819His
CA4347450
NM_000089.4:c.2456G>A