ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA260269
Gene: COL1A1
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000079.2:p.Ala348Thr
NM_000088.4:c.1042G>A