Canonical Allele Identifier: PA645453960
Gene: COL1A2 HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000080.2:p.Pro549Ala
NM_000089.4:c.1644_1645delinsTG

NM_000089.4:c.1645C>G