ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658669147
Gene: COL1A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000080.2:p.Gly907Ser
CA368224473
NM_000089.4:c.2719G>A