ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741810076
Gene: COL1A1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000079.2:p.Gly173Arg
NM_000088.4:c.517G>A
NM_000088.4:c.517G>C