ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499227943
Gene: COL1A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Gly272Ser
CA400222668
NM_000088.4:c.814G>A